subject:(disease gene candidate detection)

University of Notre Dame

1. Darcy A. Davis. Network-Centric Data Mining for Medical Applications</h1>.

Degree: Computer Science and Engineering, 2012, University of Notre Dame

URL: https://curate.nd.edu/show/df65v694x9x

► Faced with unsustainable costs and enormous amounts of under-utilized data, health care needs more efficient practices, research, and tools to harness the benefits of… (more)

Subjects/Keywords: bioinformatics; disease gene candidate detection; personalized medicine; clinical informatics; network science; translational biology; data mining; heterogeneous networks; link prediction

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APA (6^th Edition):

Davis, D. A. (2012). Network-Centric Data Mining for Medical Applications</h1>. (Thesis). University of Notre Dame. Retrieved from https://curate.nd.edu/show/df65v694x9x

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Davis, Darcy A.. “Network-Centric Data Mining for Medical Applications</h1>.” 2012. Thesis, University of Notre Dame. Accessed January 26, 2021. https://curate.nd.edu/show/df65v694x9x.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Davis, Darcy A.. “Network-Centric Data Mining for Medical Applications</h1>.” 2012. Web. 26 Jan 2021.

Vancouver:

Davis DA. Network-Centric Data Mining for Medical Applications</h1>. [Internet] [Thesis]. University of Notre Dame; 2012. [cited 2021 Jan 26]. Available from: https://curate.nd.edu/show/df65v694x9x.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Davis DA. Network-Centric Data Mining for Medical Applications</h1>. [Thesis]. University of Notre Dame; 2012. Available from: https://curate.nd.edu/show/df65v694x9x

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Vanderbilt University

2. Dumitrescu, Logan Caneel. Identificatiion and Characterization of Genetic Variants Associated with Lipid and Lipoprotein Levels.

Degree: PhD, Human Genetics, 2011, Vanderbilt University

URL: http://hdl.handle.net/1803/11282

► Low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglyceride (TG) levels are well known independent risk factors for cardiovascular disease. Other lipoproteins, such as… (more)

▼ Low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglyceride (TG) levels are well known independent risk factors for cardiovascular disease. Other lipoproteins, such as Lp(a), are also emerging, independent risk factors as increasing epidemiologic evidence suggests. Lipid-associated single-nucleotide polymorphisms (SNPs) are being discovered in genome-wide association studies (GWAS) in samples of European descent, but little data exist in other populations. Therefore, there is a strong need to characterize the effect sizes and allele frequencies of these GWAS-identified variants in a diverse, population-based cohort. Also, despite the ever-growing number of loci detected by GWAS, the proportion of trait variation explained is collectively small. To investigate this missing heritability, it is important to continue to identify novel variants that are associated with lipid levels and to explore gene-environment interactions, which may also contribute to trait variation. The primary objective of this work was to identify and characterize common genetic variants that explain a proportion of the inter-individual variability in lipids levels, including LDL-C, HDL-C, TG, and Lp(a) levels. To achieve this goal, I selected a set of SNPs associated with lipid levels from the literature and demonstrated that the majority of associations replicate and generalize in a diverse, independent cohort. An additional GWAS of children was used to discover a novel variants associated with LDL-C, HDL-C, and TG. I also performed a candidate gene study and determined that common variants in LPA were associated with Lp(a) levels. Lastly, I identified several environmental modifiers of replicated variants associated with LDL-C, HDL-C, and TG. Advisors/Committee Members: Dana Crawford (committee member), Jonathan Haines (committee member), Mary Relling (committee member), Jay Fowke (committee member), Marylyn Ritchie (Committee Chair).

Subjects/Keywords: genetics; epidemiology; gwas; candidate gene study; lipids; lipoproteins; cardiovascular disease

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Dumitrescu, L. C. (2011). Identificatiion and Characterization of Genetic Variants Associated with Lipid and Lipoprotein Levels. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/11282

Chicago Manual of Style (16^th Edition):

Dumitrescu, Logan Caneel. “Identificatiion and Characterization of Genetic Variants Associated with Lipid and Lipoprotein Levels.” 2011. Doctoral Dissertation, Vanderbilt University. Accessed January 26, 2021. http://hdl.handle.net/1803/11282.

MLA Handbook (7^th Edition):

Dumitrescu, Logan Caneel. “Identificatiion and Characterization of Genetic Variants Associated with Lipid and Lipoprotein Levels.” 2011. Web. 26 Jan 2021.

Vancouver:

Dumitrescu LC. Identificatiion and Characterization of Genetic Variants Associated with Lipid and Lipoprotein Levels. [Internet] [Doctoral dissertation]. Vanderbilt University; 2011. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/1803/11282.

Council of Science Editors:

Dumitrescu LC. Identificatiion and Characterization of Genetic Variants Associated with Lipid and Lipoprotein Levels. [Doctoral Dissertation]. Vanderbilt University; 2011. Available from: http://hdl.handle.net/1803/11282

Vanderbilt University

3. Eidem, Haley Rae. An integrative genomics approach to identifying genetic regulators of prematurity.

Degree: PhD, Biological Sciences, 2018, Vanderbilt University

URL: http://hdl.handle.net/1803/11472

► Preterm birth (PTB), or birth before 37 completed weeks of gestation, is the leading cause of newborn death worldwide. Despite its toll on human lives… (more)

Subjects/Keywords: data integration; multi-omics; complex disease; transcriptomics; preterm birth; candidate gene ranking

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APA (6^th Edition):

Eidem, H. R. (2018). An integrative genomics approach to identifying genetic regulators of prematurity. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/11472

Chicago Manual of Style (16^th Edition):

Eidem, Haley Rae. “An integrative genomics approach to identifying genetic regulators of prematurity.” 2018. Doctoral Dissertation, Vanderbilt University. Accessed January 26, 2021. http://hdl.handle.net/1803/11472.

MLA Handbook (7^th Edition):

Eidem, Haley Rae. “An integrative genomics approach to identifying genetic regulators of prematurity.” 2018. Web. 26 Jan 2021.

Vancouver:

Eidem HR. An integrative genomics approach to identifying genetic regulators of prematurity. [Internet] [Doctoral dissertation]. Vanderbilt University; 2018. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/1803/11472.

Council of Science Editors:

Eidem HR. An integrative genomics approach to identifying genetic regulators of prematurity. [Doctoral Dissertation]. Vanderbilt University; 2018. Available from: http://hdl.handle.net/1803/11472

Virginia Tech

4. Gore, Michael Allen. High-Resolution Mapping of the Region around the Soybean Virus Resistance Genes, Rsv1 and Rpv1.

Degree: MS, Crop and Soil Environmental Sciences, 2000, Virginia Tech

URL: http://hdl.handle.net/10919/34793

► Soybean mosaic virus (SMV) and peanut mottle virus (PMV) are potyviruses that can cause serious yield reductions in soybean [Glycine max (L.) Merr.]. Virus resistant… (more)

▼ Soybean mosaic virus (SMV) and peanut mottle virus (PMV) are potyviruses that can cause serious yield reductions in soybean [Glycine max (L.) Merr.]. Virus resistant soybean cultivars have been released with alleles at the Rsv1 and Rpv1 locus that confer resistance to SMV and PMV, respectively. A high-resolution map-based cloning approach was undertaken to isolate Rsv1 and Rpv1 from soybean, with hopes of providing insight into this host-pathogen relationship. A mapping population of 1,056 F2 individuals was constructed from the cross of the resistant cultivar PI 96983 (Rsv1 and Rpv1) by the susceptible cultivar Lee 68 (rsv1 and rpv1). Ninety-one of the 1,056 F2 individuals had a cross-over (recombination) in the chromosomal region between microsatellite, or simple sequence repeat (SSR) marker loci Hsp176 and Sat120, and these 91 recombinant lines (RLs) were selected for further genetic analysis. Genotypes of Rsv1 and Rpv1 for the 91 RLs were obtained by inoculating their F2:3 progeny with SMV-G1 and PMV-P1, respectively. The 91 RLs also were used for mapping one random amplified polymorphic DNA (RAPD), five SSR, and 21 restriction fragment length polymorphism (RFLP) markers. Included in these RFLP markers were seven resistance gene candidate (RGC) and five resistance gene candidate flanking (RGCF) markers. RGC probes encode a protein with homology to previously cloned plant disease resistance genes, and RGCF probes are sequences obtained from the flanking regions of candidate disease resistance genes. The resultant high-resolution map consisted of 41 marker loci detected by 27 molecular markers. Rsv1 and Rpv1 cosegregated with one or more RFLP bands detected by RGCF probes: GG27-1a, 3gG2SP, and/or T3G. Analyses of the disease reaction and molecular marker data from seven RLs suggested that the map position of Rsv1 should be at a locus different from that designated by the linkage analysis software, Mapmaker 3.0. Compared to the other 89 RLs, a high percentage (>34%) of F3 plants grown from four of these seven RLs gave a necrotic reaction when inoculated with SMV-G1. From this evidence, we believed that another locus independent of Rsv1 was involved in PI 96983's response to SMV-G1. The two loci conferring resistance to SMV-G1 were designated Rsv1a and Rsv1b. Advisors/Committee Members: Saghai-Maroof, Mohammad A. (committeechair).

Subjects/Keywords: potyvirus; resistance gene candidate; Glycine max; resistance gene candidate flanking; disease resistance

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APA (6^th Edition):

Gore, M. A. (2000). High-Resolution Mapping of the Region around the Soybean Virus Resistance Genes, Rsv1 and Rpv1. (Masters Thesis). Virginia Tech. Retrieved from http://hdl.handle.net/10919/34793

Chicago Manual of Style (16^th Edition):

Gore, Michael Allen. “High-Resolution Mapping of the Region around the Soybean Virus Resistance Genes, Rsv1 and Rpv1.” 2000. Masters Thesis, Virginia Tech. Accessed January 26, 2021. http://hdl.handle.net/10919/34793.

MLA Handbook (7^th Edition):

Gore, Michael Allen. “High-Resolution Mapping of the Region around the Soybean Virus Resistance Genes, Rsv1 and Rpv1.” 2000. Web. 26 Jan 2021.

Vancouver:

Gore MA. High-Resolution Mapping of the Region around the Soybean Virus Resistance Genes, Rsv1 and Rpv1. [Internet] [Masters thesis]. Virginia Tech; 2000. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/10919/34793.

Council of Science Editors:

Gore MA. High-Resolution Mapping of the Region around the Soybean Virus Resistance Genes, Rsv1 and Rpv1. [Masters Thesis]. Virginia Tech; 2000. Available from: http://hdl.handle.net/10919/34793

5. Jacq, Laurent. Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus : Searching for susceptibility genes for rhumatoid arthritis and coronary artery disease.

Degree: Docteur es, Biologie cellulaire et moléculaire, 2010, Evry-Val d'Essonne

URL: http://www.theses.fr/2010EVRY0014

►

La polyarthrite rhumatoïde (PR) et la maladie coronaire (MC) sont deux maladies touchant l'adulte comportant une susceptibilité génétique et partageant plusieurs chapitres physiopathologiques. Nous avons… (more)

Subjects/Keywords: Gène candidat; Candidate gene

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APA (6^th Edition):

Jacq, L. (2010). Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus : Searching for susceptibility genes for rhumatoid arthritis and coronary artery disease. (Doctoral Dissertation). Evry-Val d'Essonne. Retrieved from http://www.theses.fr/2010EVRY0014

Chicago Manual of Style (16^th Edition):

Jacq, Laurent. “Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus : Searching for susceptibility genes for rhumatoid arthritis and coronary artery disease.” 2010. Doctoral Dissertation, Evry-Val d'Essonne. Accessed January 26, 2021. http://www.theses.fr/2010EVRY0014.

MLA Handbook (7^th Edition):

Jacq, Laurent. “Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus : Searching for susceptibility genes for rhumatoid arthritis and coronary artery disease.” 2010. Web. 26 Jan 2021.

Vancouver:

Jacq L. Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus : Searching for susceptibility genes for rhumatoid arthritis and coronary artery disease. [Internet] [Doctoral dissertation]. Evry-Val d'Essonne; 2010. [cited 2021 Jan 26]. Available from: http://www.theses.fr/2010EVRY0014.

Council of Science Editors:

Jacq L. Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus : Searching for susceptibility genes for rhumatoid arthritis and coronary artery disease. [Doctoral Dissertation]. Evry-Val d'Essonne; 2010. Available from: http://www.theses.fr/2010EVRY0014

University of Illinois – Chicago

6. Jhun, Ellie H. Pain Pharmacogenetics in Sickle Cell Disease.

Degree: 2016, University of Illinois – Chicago

URL: http://hdl.handle.net/10027/21347

► Pain is the most conspicuous aspect of sickle cell disease (SCD) to those that are affected that even African tribes have been calling it onomatopoetic… (more)

Subjects/Keywords: Pain; Sickle cell disease; single nucleotide polymorphisms; genetic; monoamine neurotransmitter system; polygenic; candidate gene; SNP; acute pain crisis; chronic pain

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APA (6^th Edition):

Jhun, E. H. (2016). Pain Pharmacogenetics in Sickle Cell Disease. (Thesis). University of Illinois – Chicago. Retrieved from http://hdl.handle.net/10027/21347

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Jhun, Ellie H. “Pain Pharmacogenetics in Sickle Cell Disease.” 2016. Thesis, University of Illinois – Chicago. Accessed January 26, 2021. http://hdl.handle.net/10027/21347.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Jhun, Ellie H. “Pain Pharmacogenetics in Sickle Cell Disease.” 2016. Web. 26 Jan 2021.

Vancouver:

Jhun EH. Pain Pharmacogenetics in Sickle Cell Disease. [Internet] [Thesis]. University of Illinois – Chicago; 2016. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/10027/21347.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Jhun EH. Pain Pharmacogenetics in Sickle Cell Disease. [Thesis]. University of Illinois – Chicago; 2016. Available from: http://hdl.handle.net/10027/21347

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

7. Shetty, Priya Bhatia. Genetic Epidemiology of Hypertension in Populations: Applications of Modified Methods.

Degree: PhD, Epidemiology and Biostatistics, 2014, Case Western Reserve University School of Graduate Studies

URL: http://rave.ohiolink.edu/etdc/view?acc_num=case1385562333

► Objective: Modified methods of analysis were applied in three studies of African-Americans to identify variants associated with blood pressure and to address missing heritability in… (more)

▼ Objective: Modified methods of analysis were applied in three studies of African-Americans to identify variants associated with blood pressure and to address missing heritability in genetic studies of hypertension. Methods: Three genetic epidemiology studies were conducted in African-American subjects in the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. First, a candidate gene association study using gene scores was conducted in genomic regions that previously showed admixture association evidence for blood pressure and other cardiovascular traits. Second, admixture mapping analyses were conducted on the 22 autosomal chromosomes for blood pressure and lipids, followed by fine-mapping analyses of the suggestive admixture regions in families. Third, admixture mapping analyses were conducted for blood pressure in subjects treated with at least 2 anti-hypertensive medications, and the regions suggesting admixture evidence were followed up with fine-mapping analyses in families to identify variants associated with apparent treatment-resistant hypertension. Stratified analyses were conducted by number of drugs for phenotypes showing significant association results in all subjects. Results: In the first study, CXADR and F2RL1 were associated with blood pressure and body-mass-index, respectively. Analysis of local ancestry suggested that other associated SNPs were present in these regions. In the second study, the admixture mapping analyses identified seven regions associated with blood pressure and lipids. In the fine-mapping analyses, 11 SNPs in 8 independent loci were identified for associations with lipids. In the third study, admixture regions on chromosomes 3 and 5 were identified for association with blood pressure in all treated subjects and in subjects taking two anti-hypertensive drugs, respectively. The regions included variants that were previously identified in a large blood pressure GWAS, and the results suggested that the variants were associated with treatment response, rather than blood pressure, in African-Americans. Conclusions: A number of novel and known genomic and genetic variants were identified for blood pressure and other cardiovascular phenotypes. The methods of analysis were modified to incorporate gene scores, two-stage study designs and fine-mapping association analyses in families, and these adaptations were key in addressing some of the missing heritability in the genetics of hypertension and other cardiovascular traits. Advisors/Committee Members: Zhu, Xiaofeng (Advisor).

Subjects/Keywords: Epidemiology; Genetics; genetic epidemiology; admixture mapping analysis; candidate gene analysis; African-Americans; blood pressure; cardiovascular disease

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APA (6^th Edition):

Shetty, P. B. (2014). Genetic Epidemiology of Hypertension in Populations: Applications of Modified Methods. (Doctoral Dissertation). Case Western Reserve University School of Graduate Studies. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=case1385562333

Chicago Manual of Style (16^th Edition):

Shetty, Priya Bhatia. “Genetic Epidemiology of Hypertension in Populations: Applications of Modified Methods.” 2014. Doctoral Dissertation, Case Western Reserve University School of Graduate Studies. Accessed January 26, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1385562333.

MLA Handbook (7^th Edition):

Shetty, Priya Bhatia. “Genetic Epidemiology of Hypertension in Populations: Applications of Modified Methods.” 2014. Web. 26 Jan 2021.

Vancouver:

Shetty PB. Genetic Epidemiology of Hypertension in Populations: Applications of Modified Methods. [Internet] [Doctoral dissertation]. Case Western Reserve University School of Graduate Studies; 2014. [cited 2021 Jan 26]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=case1385562333.

Council of Science Editors:

Shetty PB. Genetic Epidemiology of Hypertension in Populations: Applications of Modified Methods. [Doctoral Dissertation]. Case Western Reserve University School of Graduate Studies; 2014. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=case1385562333

University of Oulu

8. Hietikko, E. (Elina). Genetic and clinical features of familial Meniere’s disease in Northern Ostrobothnia and Kainuu.

Degree: 2013, University of Oulu

URL: http://urn.fi/urn:isbn:9789526201573

►

Abstract Meniere’s disease (MD) is an inner ear disorder characterized by vertigo, tinnitus and sensorineural hearing impairment. An inherited form of the disease is called… (more)

▼

Abstract Meniere’s disease (MD) is an inner ear disorder characterized by vertigo, tinnitus and sensorineural hearing impairment. An inherited form of the disease is called familial Meniere’s disease (FMD). The aim of this thesis was to describe the clinical and genetic features of Finnish FMD and to study its prevalence in Finland. In addition genetic factors previously associated with MD were studied in Finnish MD patients. A total of 38 Meniere-families were analysed in this study. In most of the families the mode of inheritance was found to be autosomal dominant. Meniere-like symptoms such as tinnitus or vertigo were common in these families even in individuals without a full triad of MD. Familial patients were affected earlier, suffered from longer spells of vertigo and had more autoimmune diseases compared to sporadic MD patients. The prevalence of FMD was studied among the patients treated in the Oulu University Hospital and Kainuu Central Hospital during the years 2005-2010. A family history of MD was probable in 23.4% of the cases, but only 9.3% could be confirmed, as it was not possible to gain information from deceased generations. Six candidate genes previously associated with MD were screened for mutations in Finnish MD patients. Two possibly adverse variations were observed in the KCNE1 gene in two patients but in none of the controls. The role of these variations in MD is still unclear and needs further study. The association of MD to the five other genes could not be confirmed, nor was Finnish FMD linked to a previously suggested locus on chromosome 12.

Tiivistelmä Menieren tauti on sisäkorvan sairaus, jolle on tyypillistä huimaus, korvien soiminen ja kuulon heikkeneminen. Tauti voi esiintyä myös perinnöllisenä. Tutkimustyön tavoitteena oli selvittää perinnöllisyyden osuutta Menieren taudissa, kuvata suomalaisen perinnöllisen Menieren taudin tyypilliset piirteet ja tutkia suomalaisessa aineistossa aikaisemmin tautiin yhdistettyjä perinnöllisiä tekijöitä. Tutkimuksessa analysoitiin 38 sukua, joissa Menieren tautia esiintyi perinnöllisenä. Suurimmassa osassa tapauksista periytyminen tapahtui vallitsevasti. Suvuissa esiintyi paljon Meniere-tyypistä oirehdintaa, kuten tinnitusta ja huimausta, ilman Menieren taudin koko taudinkuvaa. Meniere-suvuissa potilaat sairastuivat keskimääräistä aikaisemmin, kärsivät pidemmistä huimauskohtauksista ja sairastivat enemmän autoimmuunitauteja. Perinnöllisen Menieren taudin yleisyyttä tutkittiin Kainuun keskussairaalassa ja Oulun yliopistollisessa sairaalassa vuosina 2005−2010 hoidettujen potilaiden keskuudessa. Potilaista 23,4 %:lla Menieren taudin sukuhistoria oli positiivinen; kuitenkin vain 9,3 % pystyttiin vahvistamaan, sillä tietojen kerääminen edesmenneiltä sukupolvilta ei ollut mahdollista. Kuuden Menieren tautiin aikaisemmin yhdistetyn geenin merkitystä tutkittiin suomalaisessa aineistossa mutaatio- ja ehdokasgeenianalyysillä. KCNE1-geenistä löydettiin kaksi mahdollisesti proteiinia vaurioittavaa sekvenssinvaihtelua, joita ei havaittu…

Advisors/Committee Members: Männikkö, M. (Minna), Sorri, M. (Martti), Kotimäki, J. (Jouko).

Subjects/Keywords: KCNE1; candidate gene analysis; familial Meniere’s disease; hearing impairment; sporadic Meniere’s disease; vertigo; KCNE1; Menieren tauti; ehdokasgeenianalyysi; familiaalinen; genetiikka; huimaus; kuulonalenema; perinnöllisyys

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Hietikko, E. (. (2013). Genetic and clinical features of familial Meniere’s disease in Northern Ostrobothnia and Kainuu. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789526201573

Chicago Manual of Style (16^th Edition):

Hietikko, E (Elina). “Genetic and clinical features of familial Meniere’s disease in Northern Ostrobothnia and Kainuu.” 2013. Doctoral Dissertation, University of Oulu. Accessed January 26, 2021. http://urn.fi/urn:isbn:9789526201573.

MLA Handbook (7^th Edition):

Hietikko, E (Elina). “Genetic and clinical features of familial Meniere’s disease in Northern Ostrobothnia and Kainuu.” 2013. Web. 26 Jan 2021.

Vancouver:

Hietikko E(. Genetic and clinical features of familial Meniere’s disease in Northern Ostrobothnia and Kainuu. [Internet] [Doctoral dissertation]. University of Oulu; 2013. [cited 2021 Jan 26]. Available from: http://urn.fi/urn:isbn:9789526201573.

Council of Science Editors:

Hietikko E(. Genetic and clinical features of familial Meniere’s disease in Northern Ostrobothnia and Kainuu. [Doctoral Dissertation]. University of Oulu; 2013. Available from: http://urn.fi/urn:isbn:9789526201573

University of Melbourne

9. Mountford, Hayley S. Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach.

Degree: 2015, University of Melbourne

URL: http://hdl.handle.net/11343/93558

► Inherited defects in mitochondrial oxidative phosphorylation (OXPHOS) are the most common inborn error of metabolism, affecting at least 1 in 5000 live births (Skladal, Halliday… (more)

▼ Inherited defects in mitochondrial oxidative phosphorylation (OXPHOS) are the most common inborn error of metabolism, affecting at least 1 in 5000 live births (Skladal, Halliday et al. 2003), and predominantly affect organs with high-energy consumption such as the brain, skeletal muscle, cardiac muscle and liver. Mitochondrial diseases are notoriously difficult to diagnose, as they show extreme clinical heterogeneity, presenting at any age and with any level of severity, and typically impact on multiple organ systems (Munnich and Rustin 2001). They are also genetically heterogeneous with over 200 mitochondrial DNA and nuclear DNA encoding genes associated with OXPHOS disease. Despite the large number of disease genes being identified, many patients with OXPHOS disease remain without a molecular diagnosis. We developed a targeted DNA capture and massively parallel sequencing method to detect variants within 1,034 genes encoding proteins known or implicated as having a mitochondrial function, known as the MitoExome. My PhD studies have focused on the characterisation of two novel genes identified by MitoExome sequencing; UQCC2 and UQCR10. Both UQCC2 and UQCR10 are components of mitochondrial complex III. By using a panel of patients with causative mutations in a range of different complex III subunits and assembly factors, we have further characterised the assembly pathway of complex III. Of the 45 patients who underwent MitoExome sequencing, a third remain without a molecular cause identified. To address this, I utilised several alternative analysis strategies to pursue molecular diagnoses in patients where a causative mutation had not been easily identified. Reanalysis of the MitoExome data using two different analysis pipelines (Cpipe and xBrowse) identified an additional patient diagnosis in RMND1. Comparison between the two pipelines highlighted some key differences between analyses for research compared to a clinical setting. The Birth Prevalence cohort is a 12 year follow up study to revisit the original cohort reported by Skladal and colleagues in 2003 (Skladal, Halliday et al. 2003). This study identified 86 patients with a confirmed diagnosis of mitochondrial disease who were born in South Eastern Australia between 1987 and 1996. This cohort was used to calculate the birth prevalence of mitochondrial disorders as 1 in 5000 live births. At the time of publication 23% (n=20/86) of patients had a molecular diagnosis identified. The 2015 review of this cohort found an additional 19 patients who fit the inclusion criteria, bringing the total number of patients to 105. Currently, 70% (n=73/105) of Birth Prevalence cohort patients have a molecular cause identified. This PhD describes some preliminary molecular investigation of 19 patients, who are as yet without a molecular diagnosis.

Subjects/Keywords: mitochondrial deficiency; mitochondrial disease; genetics; human genetics; complex III; next generation sequencing; massively parallel sequencing; disease genetics; candidate gene sequencing; birth prevalence estimate; OXPHOS; oxidative phosphorylation; MitoExome; targeted sequencing

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APA (6^th Edition):

Mountford, H. S. (2015). Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/93558

Chicago Manual of Style (16^th Edition):

Mountford, Hayley S. “Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach.” 2015. Doctoral Dissertation, University of Melbourne. Accessed January 26, 2021. http://hdl.handle.net/11343/93558.

MLA Handbook (7^th Edition):

Mountford, Hayley S. “Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach.” 2015. Web. 26 Jan 2021.

Vancouver:

Mountford HS. Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach. [Internet] [Doctoral dissertation]. University of Melbourne; 2015. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/11343/93558.

Council of Science Editors:

Mountford HS. Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach. [Doctoral Dissertation]. University of Melbourne; 2015. Available from: http://hdl.handle.net/11343/93558

University of Edinburgh

10. Frenken, Hannah. Neuroticism, stress and psychological wellbeing: the role of CRHR1 and HSD11B1 in neuroticism, anxiety and depression.

Degree: 2012, University of Edinburgh

URL: http://hdl.handle.net/1842/8456

► Personality factors are increasingly being recognised as valuable predictors of psychopathology. Neuroticism has been a focus of epidemiologically-oriented personality research, and has been associated with… (more)

Subjects/Keywords: Neuroticism; HSD11B1; CRHR1; Candidate gene study

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APA (6^th Edition):

Frenken, H. (2012). Neuroticism, stress and psychological wellbeing: the role of CRHR1 and HSD11B1 in neuroticism, anxiety and depression. (Thesis). University of Edinburgh. Retrieved from http://hdl.handle.net/1842/8456

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Frenken, Hannah. “Neuroticism, stress and psychological wellbeing: the role of CRHR1 and HSD11B1 in neuroticism, anxiety and depression.” 2012. Thesis, University of Edinburgh. Accessed January 26, 2021. http://hdl.handle.net/1842/8456.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Frenken, Hannah. “Neuroticism, stress and psychological wellbeing: the role of CRHR1 and HSD11B1 in neuroticism, anxiety and depression.” 2012. Web. 26 Jan 2021.

Vancouver:

Frenken H. Neuroticism, stress and psychological wellbeing: the role of CRHR1 and HSD11B1 in neuroticism, anxiety and depression. [Internet] [Thesis]. University of Edinburgh; 2012. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/1842/8456.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Frenken H. Neuroticism, stress and psychological wellbeing: the role of CRHR1 and HSD11B1 in neuroticism, anxiety and depression. [Thesis]. University of Edinburgh; 2012. Available from: http://hdl.handle.net/1842/8456

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Vanderbilt University

11. Liang, Xueying. Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence.

Degree: PhD, Human Genetics, 2007, Vanderbilt University

URL: http://hdl.handle.net/1803/11992

► With the exception of ApoE gene, no universally accepted genetic association has been identified with the complex Late-onset Alzheimer Disease (LOAD). A broad region of… (more)

▼ With the exception of ApoE gene, no universally accepted genetic association has been identified with the complex Late-onset Alzheimer Disease (LOAD). A broad region of chromosome 10 has engendered continued interest generated from both preliminary genetic linkage and candidate gene studies. To better examine this region, we applied the genomic convergence approach by combining unbiased genetic linkage with candidate gene association studies. We genotyped 36 SNPs across 80.2 Mb in 567 multiplex families to narrow the peak region of linkage using both covariate and subset analyses. Simultaneously, we examined seven functional candidate genes that also fell within the broad area of linkage. Although a two point LOD score of 2.69 was obtained in the linkage analysis, the associated candidate genes were not under the linkage peak, suggesting a more extensive heterogeneity on chromosome10 than previously expected. We then converged linkage analysis and gene expression data to identify genes that were under linkage peaks and also differentially expressed in AD cases and controls based on the rationale that genes showing positive results in multiple studies are more likelihood to be involved in AD. We identified and examined 28 genes on chromosome 10 for the association with AD. Both single marker and haplotypic associations were tested in overall and eight subsets that were stratified by age, gender, ApoE status and clinical diagnosis. Gene-gene interaction was tested to detect important genes in this complex disease. PTPLA gene showed allelic, genotypic and haplotypic association in the overall dataset. The SORCS1 gene showed very significant association in the female dataset (allelic association p=0.00002, a 3-locus haplotype has p=0.00098). Two SNPs in CACNB2 gene showed gene-gene interaction in overall dataset using Multifactor Dimensionality Reduction (MDR). The work presented in this dissertation applied a multifactorial, multistep approach, genomic convergence, which combined linkage analysis, gene expression data, and candidate gene association analysis to identify and prioritize candidate susceptibility genes for AD. This study suggests that genetic variations in PTPLA, SORCS1 and CACNB2 genes might alter the risk for Alzheimer disease by affecting multiple pathways. Advisors/Committee Members: Scott M. Williams (committee member), Jonathan L. Haines (committee member), Douglas P. Mortlock (committee member), Harry E. Gwirtsman (committee member), Marylyn D. Ritchie (Committee Chair).

Subjects/Keywords: Alzheimer Disease; gene-gene interaction; genomic convergence; association; candidate gene; chromosome 10; linkage; SNP; genetics; Alzheimer's disease – Susceptibility

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APA (6^th Edition):

Liang, X. (2007). Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/11992

Chicago Manual of Style (16^th Edition):

Liang, Xueying. “Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence.” 2007. Doctoral Dissertation, Vanderbilt University. Accessed January 26, 2021. http://hdl.handle.net/1803/11992.

MLA Handbook (7^th Edition):

Liang, Xueying. “Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence.” 2007. Web. 26 Jan 2021.

Vancouver:

Liang X. Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence. [Internet] [Doctoral dissertation]. Vanderbilt University; 2007. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/1803/11992.

Council of Science Editors:

Liang X. Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence. [Doctoral Dissertation]. Vanderbilt University; 2007. Available from: http://hdl.handle.net/1803/11992

University of Gothenburg / Göteborgs Universitet

12. Karlsson, Sandra. Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma.

Degree: 2008, University of Gothenburg / Göteborgs Universitet

URL: http://hdl.handle.net/2077/18779

► Endometrial cancer develops from the endometrium of the uterus and is the most common pelvic malignancy diagnosed in women in the western society. Similar to… (more)

▼ Endometrial cancer develops from the endometrium of the uterus and is the most common pelvic malignancy diagnosed in women in the western society. Similar to all cancer diseases, endometrial cancer is a disorder that results from complex patterns of genetic and epigenetic alterations involved in the malignant transformation. The BDII/Han rat model is unique for spontaneous hormonal carcinogenesis since more than 90% of the female virgins spontaneously develop endometrial cancer. The possibility to perform global gene expression profiling of tumor cells would likely provide important information of the genes and pathways that are aberrant in endometrial adenocarcinoma (EAC). The works in the present thesis have been focused on investigating the expression patterns in endometrial tumors. The findings in this thesis involve the identification of a novel candidate tumor suppressor region of rat chromosome 10. This genomic segment contains 18 potential tumor suppressor genes. Preliminary microarray data analysis confirmed that this region might contain relevant candidate genes as the EACs on average had 3.8 times lower expression of Crk in comparison to the normal/pre-malignant endometrial tissue cultures. Furthermore, an expression analysis using qPCR, revealed a significant down-regulation of Myo1c and Hic. We were also able to identify a group of genes associated with the TGF-β pathway that were differentially expressed between endometrial tumors and normal/pre-malignant endometrium. These results suggest that the TGF-β signaling pathway is disrupted in EAC. This has previously been demonstrated in human EAC, although this is the first report on aberrant expression of TGF-β down-stream target genes. Evaluation of Gpx3 down-regulation in the rat EAC cell lines revealed an almost complete loss of expression in a majority of the endometrial tumors. From methylation studies, we could conclude that the loss of expression of Gpx3 is correlated with biallelic hypermethylation in the Gpx3 promoter region. This result was confirmed with a demethylation study of EAC cell lines, where the Gpx3 mRNA expression was restored after treatment with a demethylation agent and a deacetylation inhibitor. We also showed that mRNA expression of the well-known oncogene, Met, was slightly higher in endometrial tumors with loss of Gpx3 expression. A likely consequence of loss of Gpx3 function is a higher amount of reactive oxygen species (ROS) in the cancer cell environment. Since it has been proposed that overproduction of ROS is required for the hypoxic activation of HIF-1, we suggest that loss of Gpx3 expression activates transcription of Met through induction of the transcription factor HIF-1. The loss of the protective properties of GPX3 most likely makes the endometrial cells more vulnerable to ROS damage and genome instability. We extended the results obtained from the rat endometrial tumors to human material, and conducted expression analysis of GPX3 in 30 endometrial human tumors using qPCR. The results showed a uniformly…

Subjects/Keywords: rat; complex disease; Endometrial adenocarcinoma; gene expression profiling; cDNA microarrays; candidate genes

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APA (6^th Edition):

Karlsson, S. (2008). Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma. (Thesis). University of Gothenburg / Göteborgs Universitet. Retrieved from http://hdl.handle.net/2077/18779

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Karlsson, Sandra. “Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma.” 2008. Thesis, University of Gothenburg / Göteborgs Universitet. Accessed January 26, 2021. http://hdl.handle.net/2077/18779.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Karlsson, Sandra. “Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma.” 2008. Web. 26 Jan 2021.

Vancouver:

Karlsson S. Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma. [Internet] [Thesis]. University of Gothenburg / Göteborgs Universitet; 2008. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/2077/18779.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Karlsson S. Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma. [Thesis]. University of Gothenburg / Göteborgs Universitet; 2008. Available from: http://hdl.handle.net/2077/18779

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Georgia Tech

13. Hagen, Matthew. Biological and clinical data integration and its applications in healthcare.

Degree: PhD, Computer Science, 2014, Georgia Tech

URL: http://hdl.handle.net/1853/54267

► Answers to the most complex biological questions are rarely determined solely from the experimental evidence. It requires subsequent analysis of many data sources that are… (more)

▼ Answers to the most complex biological questions are rarely determined solely from the experimental evidence. It requires subsequent analysis of many data sources that are often heterogeneous. Most biological data repositories focus on providing only one particular type of data, such as sequences, molecular interactions, protein structure, or gene expression. In many cases, it is required for researchers to visit several different databases to answer one scientific question. It is essential to develop strategies to integrate disparate biological data sources that are efficient and seamless to facilitate the discovery of novel associations and validate existing hypotheses. This thesis presents the design and development of different integration strategies of biological and clinical systems. The BioSPIDA system is a data warehousing solution that integrates many NCBI databases and other biological sources on protein sequences, protein domains, and biological pathways. It utilizes a universal parser facilitating integration without developing separate source code for each data site. This enables users to execute fine-grained queries that can filter genes by their protein interactions, gene expressions, functional annotation, and protein domain representation. Relational databases can powerfully return and generate quickly filtered results to research questions, but they are not the most suitable solution in all cases. Clinical patients and genes are typically annotated by concepts in hierarchical ontologies and performance of relational databases are weakened considerably when traversing and representing graph structures. This thesis illustrates when relational databases are most suitable as well as comparing the performance benchmarks of semantic web technologies and graph databases when comparing ontological concepts. Several approaches of analyzing integrated data will be discussed to demonstrate the advantages over dependencies on remote data centers. Intensive Care Patients are prioritized by their length of stay and their severity class is estimated by their diagnosis to help minimize wait time and preferentially treat patients by their condition. In a separate study, semantic clustering of patients is conducted by integrating a clinical database and a medical ontology to help identify multi-morbidity patterns. In the biological area, gene pathways, protein interaction networks, and functional annotation are integrated to help predict and prioritize candidate disease genes. This thesis will present the results that were able to be generated from each project through utilizing a local repository of genes, functional annotations, protein interactions, clinical patients, and medical ontologies. Advisors/Committee Members: Lee, Eva K. (advisor), Jordan, King (committee member), Song, Le (committee member), Navathe, Shamkant (committee member), Buchman, Timothy (committee member).

Subjects/Keywords: Biological database integration; Clinical data warehouse; Candidate gene prioritization; Disease; Diffusion kernel; Data mining; Ontology; Semantic similarity; Clustering; Intensive care unit; Hospital prioritization; Patient; Machine learning

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APA (6^th Edition):

Hagen, M. (2014). Biological and clinical data integration and its applications in healthcare. (Doctoral Dissertation). Georgia Tech. Retrieved from http://hdl.handle.net/1853/54267

Chicago Manual of Style (16^th Edition):

Hagen, Matthew. “Biological and clinical data integration and its applications in healthcare.” 2014. Doctoral Dissertation, Georgia Tech. Accessed January 26, 2021. http://hdl.handle.net/1853/54267.

MLA Handbook (7^th Edition):

Hagen, Matthew. “Biological and clinical data integration and its applications in healthcare.” 2014. Web. 26 Jan 2021.

Vancouver:

Hagen M. Biological and clinical data integration and its applications in healthcare. [Internet] [Doctoral dissertation]. Georgia Tech; 2014. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/1853/54267.

Council of Science Editors:

Hagen M. Biological and clinical data integration and its applications in healthcare. [Doctoral Dissertation]. Georgia Tech; 2014. Available from: http://hdl.handle.net/1853/54267

14. Arias-Vásquez, Alejandro. A genetic-epidemiologic study of Alzheimer’s disease.

Degree: 2006, Erasmus University Medical Center

URL: http://hdl.handle.net/1765/8241

► textabstractAlzheimer's disease (AD) is the most frequent cause of dementia and thus is a major public-health problem. Age and genetic predisposition to the disease are… (more)

Subjects/Keywords: Alzheimer's disease; candidate gene studies; family based studies; genetic epidemiology; isolated population

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APA (6^th Edition):

Arias-Vásquez, A. (2006). A genetic-epidemiologic study of Alzheimer’s disease. (Doctoral Dissertation). Erasmus University Medical Center. Retrieved from http://hdl.handle.net/1765/8241

Chicago Manual of Style (16^th Edition):

Arias-Vásquez, Alejandro. “A genetic-epidemiologic study of Alzheimer’s disease.” 2006. Doctoral Dissertation, Erasmus University Medical Center. Accessed January 26, 2021. http://hdl.handle.net/1765/8241.

MLA Handbook (7^th Edition):

Arias-Vásquez, Alejandro. “A genetic-epidemiologic study of Alzheimer’s disease.” 2006. Web. 26 Jan 2021.

Vancouver:

Arias-Vásquez A. A genetic-epidemiologic study of Alzheimer’s disease. [Internet] [Doctoral dissertation]. Erasmus University Medical Center; 2006. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/1765/8241.

Council of Science Editors:

Arias-Vásquez A. A genetic-epidemiologic study of Alzheimer’s disease. [Doctoral Dissertation]. Erasmus University Medical Center; 2006. Available from: http://hdl.handle.net/1765/8241

University of Guelph

15. Archer, Holly. The identification of functional mutations affecting boar taint.

Degree: MS, Department of Animal Biosciences, 2016, University of Guelph

URL: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/9955

► Despite mounting welfare concerns, surgical castration of all male piglets is the most common method to control for boar taint. The aim of this study… (more)

Subjects/Keywords: boar taint; SNP; androstenone; skatole; CYP2E1; candidate gene; gene expression

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APA (6^th Edition):

Archer, H. (2016). The identification of functional mutations affecting boar taint. (Masters Thesis). University of Guelph. Retrieved from https://atrium.lib.uoguelph.ca/xmlui/handle/10214/9955

Chicago Manual of Style (16^th Edition):

Archer, Holly. “The identification of functional mutations affecting boar taint.” 2016. Masters Thesis, University of Guelph. Accessed January 26, 2021. https://atrium.lib.uoguelph.ca/xmlui/handle/10214/9955.

MLA Handbook (7^th Edition):

Archer, Holly. “The identification of functional mutations affecting boar taint.” 2016. Web. 26 Jan 2021.

Vancouver:

Archer H. The identification of functional mutations affecting boar taint. [Internet] [Masters thesis]. University of Guelph; 2016. [cited 2021 Jan 26]. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/9955.

Council of Science Editors:

Archer H. The identification of functional mutations affecting boar taint. [Masters Thesis]. University of Guelph; 2016. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/9955

Tampere University

16. Laitinen, Virpi. Genetic risk factors for hereditary prostate cancer in Finland - From targeted analysis of susceptibility loci to genome-wide copy number variation study .

Degree: 2016, Tampere University

URL: https://trepo.tuni.fi/handle/10024/99215

► Periytyvä eturauhassyöpäalttius Suomessa - tunnettuja ja uusia kandidaattigeenejä Noin joka neljäs ihminen sairastuu elämänsä aikana syöpään. Suomessa miesten yleisin syöpäsairaus on eturauhassyöpä, joka todetaan vuosittain… (more)

▼ Periytyvä eturauhassyöpäalttius Suomessa - tunnettuja ja uusia kandidaattigeenejä Noin joka neljäs ihminen sairastuu elämänsä aikana syöpään. Suomessa miesten yleisin syöpäsairaus on eturauhassyöpä, joka todetaan vuosittain noin 5000 miehellä. Suuri osa eturauhassyöpäalttiudesta selittyy perinnöllisillä tekijöillä. Eturauhassyöpä on kuitenkin geneettisesti huomattavan heterogeeninen sairaus. Toistaiseksi tunnetaan vain muutamia varsinaisia alttiusgeenejä, joiden virheet liittyvät korkeaan sairastumisriskiin. Näiden harvinaisten muutosten lisäksi on löydetty useita yleisempiä, matalan riskin geenivirheitä. Suomalaisissa korkean riskin perheissä tunnetut geenivirheet selittävät kuitenkin vain pienen osan eturauhassyöpätapauksista, eikä sairastumisriskissä olevia perheenjäseniä ole tällä hetkellä mahdollista luotettavasti tunnistaa. Tutkimuksen tavoitteena oli saada uutta tietoa eturauhassyövälle altistavista perinnöllisistä tekijöistä suomalaisväestössä. Tutkimuksessa keskityttiin etsimään geenivirheitä erityisesti kromosomialueilta 2q37 ja 17q11.2-q22, joiden on jo aiemmin todettu liittyvän kohonneeseen eturauhassyöpäalttiuteen. Alueiden hienokartoitus perustui DNA:n ja RNA:n syväsekvensointiin. Havaittujen, mahdollisesti haitallisiksi arvioitujen geenivirheiden yhteyttä eturauhassyöpään selvitettiin tutkimalla näiden muutosten esiintyvyyttä laajoissa potilas- ja verrokkiaineistoissa mm. TaqMan-kemiaa ja Sequenom MassARRAY-teknologiaa hyödyntäen. Lisäksi eturauhassyöpäpotilailta etsittiin geenien kopioluvun muutoksia koko perimän alueelta. Kopiolukuanalyysissä käytettiin sirupohjaista vertailevaa genomista hybridisaatiomenetelmää (ns. array-CGH). Kromosomialueelle 2q37 on aiemmissa tutkimuksissa paikannettu kaksi kandidaattigeeniä, HDAC4 ja ANO7, ja alueelle 17q11.2-q22 samoin kaksi kandidaattigeeniä, HOXB13 ja ZNF652. Näistä erityisesti HOXB13-geenin p.G84E-muutoksen on havaittu liittyvän periytyvään eturauhassyöpäalttiuteen. Tässä tutkimuksessa selvitettiin kyseisen p.G84E-muutoksen yleisyyttä Suomessa. Muutos oli osoitettavissa 8.4 %:lla potilaista, jotka kuuluivat korkean riskin eturauhassyöpäperheisiin, sekä 3.6 %:lla satunnaista eturauhassyöpää sairastavista potilaista, kun taas verrokeista vain 1.0 % todettiin muutoksen kantajiksi. HOXB13-geenin p.G84E-muutos on siis toistaiseksi yleisin eturauhassyövälle altistava geenivirhe Suomessa. ZNF652-geenistä tunnistettiin kaksi uutta, haitalliseksi ennustettua muutosta, jotka liittyivät kohonneeseen eturauhassyöpäalttiuteen sekä perheaineistossa että satunnaista eturauhassyöpää sairastavilla potilailla. Lisäksi HDAC4-geenistä löydettiin uusi, harvinainen periytyvään eturauhassyöpäalttiuteen liittyvä muutos ja ANO7-geenistä kahdeksan mahdollisesti haitallista muutosta, joskin näiden geenivirheiden kliinisen merkityksen arvioiminen edellyttää vielä lisäselvityksiä. Tutkimuksessa löydettiin myös uusia mahdollisia eturauhassyövän kandidaattigeenejä, esimerkiksi HOXB3 ja EFCAB13 alueelta 17q21.3. Kopiolukuanalyysissä tunnistettiin neljä kopiolukumuutosta, jotka…

Subjects/Keywords: periytyvä eturauhassyöpäalttius ; alttiusgeeni ; riskialleeli ; hereditary prostate cancer ; candidate gene ; risk variant

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Laitinen, V. (2016). Genetic risk factors for hereditary prostate cancer in Finland - From targeted analysis of susceptibility loci to genome-wide copy number variation study . (Doctoral Dissertation). Tampere University. Retrieved from https://trepo.tuni.fi/handle/10024/99215

Chicago Manual of Style (16^th Edition):

Laitinen, Virpi. “Genetic risk factors for hereditary prostate cancer in Finland - From targeted analysis of susceptibility loci to genome-wide copy number variation study .” 2016. Doctoral Dissertation, Tampere University. Accessed January 26, 2021. https://trepo.tuni.fi/handle/10024/99215.

MLA Handbook (7^th Edition):

Laitinen, Virpi. “Genetic risk factors for hereditary prostate cancer in Finland - From targeted analysis of susceptibility loci to genome-wide copy number variation study .” 2016. Web. 26 Jan 2021.

Vancouver:

Laitinen V. Genetic risk factors for hereditary prostate cancer in Finland - From targeted analysis of susceptibility loci to genome-wide copy number variation study . [Internet] [Doctoral dissertation]. Tampere University; 2016. [cited 2021 Jan 26]. Available from: https://trepo.tuni.fi/handle/10024/99215.

Council of Science Editors:

Laitinen V. Genetic risk factors for hereditary prostate cancer in Finland - From targeted analysis of susceptibility loci to genome-wide copy number variation study . [Doctoral Dissertation]. Tampere University; 2016. Available from: https://trepo.tuni.fi/handle/10024/99215

17. Pippalla, Suresh Balaji. Fine mapping of Rf3 and Rf4 loci for WA CMS fertility restroration for the idetification of candidate gene markers and their validation; -.

Degree: Physics, 2012, Acharya Nagarjuna University

URL: http://shodhganga.inflibnet.ac.in/handle/10603/49164

None

Bibliography given

Advisors/Committee Members: Neeraja, C N.

Subjects/Keywords: candidate gene; idetification; restroration

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APA (6^th Edition):

Pippalla, S. B. (2012). Fine mapping of Rf3 and Rf4 loci for WA CMS fertility restroration for the idetification of candidate gene markers and their validation; -. (Thesis). Acharya Nagarjuna University. Retrieved from http://shodhganga.inflibnet.ac.in/handle/10603/49164

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Pippalla, Suresh Balaji. “Fine mapping of Rf3 and Rf4 loci for WA CMS fertility restroration for the idetification of candidate gene markers and their validation; -.” 2012. Thesis, Acharya Nagarjuna University. Accessed January 26, 2021. http://shodhganga.inflibnet.ac.in/handle/10603/49164.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Pippalla, Suresh Balaji. “Fine mapping of Rf3 and Rf4 loci for WA CMS fertility restroration for the idetification of candidate gene markers and their validation; -.” 2012. Web. 26 Jan 2021.

Vancouver:

Pippalla SB. Fine mapping of Rf3 and Rf4 loci for WA CMS fertility restroration for the idetification of candidate gene markers and their validation; -. [Internet] [Thesis]. Acharya Nagarjuna University; 2012. [cited 2021 Jan 26]. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/49164.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Pippalla SB. Fine mapping of Rf3 and Rf4 loci for WA CMS fertility restroration for the idetification of candidate gene markers and their validation; -. [Thesis]. Acharya Nagarjuna University; 2012. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/49164

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

North Carolina State University

18. Zhang, Ping. The Applications of Candidate Gene Approaches in the Characterization of Seed Quality Traits in Soybean.

Degree: PhD, Crop Science, 2009, North Carolina State University

URL: http://www.lib.ncsu.edu/resolver/1840.16/3967

► Over the past decade, candidate gene approaches have become increasing popular as a means to identify and characterize genes associated with the agronomically important traits… (more)

▼ Over the past decade, candidate gene approaches have become increasing popular as a means to identify and characterize genes associated with the agronomically important traits in crop species. The studies outlined in this dissertation describe an attempt to elucidate the molecular basis of two important traits related to soybean seed quality through the implementation of this approach. Soybean germplasm possessing a high stearic acid (18:0) content is favorable for meeting the demands for oxidatively stable vegetable oils that donÃ¢â‚¬â„¢t require hydrogenation, a process that generates undesirable trans fatty acids. We isolated a novel Ã¢Ë†â€ 9-stearoyl-ACP-desaturase gene, designated SACPD-C, whose enzymatic function serves to convert stearic acid (18:0) to oleic acid (18:1) specifically during seed development. SACPD-C was found to be mutated in two independent high stearic acid soybean lines, A6 and FAM94-41. A molecular marker was generated that can distinguish the muant SACPD-C gene in FAM94-41 and can thus serve as a useful tool in introducing the trait into elite germplasm using marker assisted selection. Lowering the phytic acid levels in soybeans would not only enhance the nutritional value of the seed for its use as livestock feed, but also help reduce problems associated with phosphorus pollution of soils and groundwater. We applied a candidate gene approach to identify genes responsible for one low phytic acid soybean germplasm G03PHY-443. Comparison of myo-inositol and myo-inositol phosphate intermediates between the wildtype and mutant lines suggested that the mutation occurs at an early step of the phytic acid biosynthetic pathway. Biochemical assays of phosphatidylinositol kinase and diacylglycerol kinase activities suggested that the lipid dependent branch of the phytic acid metabolic pathway may actually be up-regulated in the mutant G03PHY-443 germplasm. Even more surprising, analysis of what we considered the three best candidate genes failed to reveal any perturbation that could count for the reduced phytic acid phenotype. Cumulatively, the results from this study enhanced our understanding of phytic acid biosynthesis in soybean seed and suggested that nonconvertional gene mutations are responsible for the low accumulations of the compound in line G03PHY-443. Advisors/Committee Members: Ralph Dewey, Committee Chair (advisor).

Subjects/Keywords: Stearic Acid; Fatty acids; Lipid; Soybean; Candidate Gene Appraoch; Phytic Acid.

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APA (6^th Edition):

Zhang, P. (2009). The Applications of Candidate Gene Approaches in the Characterization of Seed Quality Traits in Soybean. (Doctoral Dissertation). North Carolina State University. Retrieved from http://www.lib.ncsu.edu/resolver/1840.16/3967

Chicago Manual of Style (16^th Edition):

Zhang, Ping. “The Applications of Candidate Gene Approaches in the Characterization of Seed Quality Traits in Soybean.” 2009. Doctoral Dissertation, North Carolina State University. Accessed January 26, 2021. http://www.lib.ncsu.edu/resolver/1840.16/3967.

MLA Handbook (7^th Edition):

Zhang, Ping. “The Applications of Candidate Gene Approaches in the Characterization of Seed Quality Traits in Soybean.” 2009. Web. 26 Jan 2021.

Vancouver:

Zhang P. The Applications of Candidate Gene Approaches in the Characterization of Seed Quality Traits in Soybean. [Internet] [Doctoral dissertation]. North Carolina State University; 2009. [cited 2021 Jan 26]. Available from: http://www.lib.ncsu.edu/resolver/1840.16/3967.

Council of Science Editors:

Zhang P. The Applications of Candidate Gene Approaches in the Characterization of Seed Quality Traits in Soybean. [Doctoral Dissertation]. North Carolina State University; 2009. Available from: http://www.lib.ncsu.edu/resolver/1840.16/3967

Indiana State University

19. Korody, Marisa L. Levels of Selection in a Polymorphic Species .

Degree: 2013, Indiana State University

URL: http://hdl.handle.net/10484/5378

► Phenotype is affected by many factors, including but not limited to environment, conspecifics, and genetics. Evidence of phenotypic variation is everywhere, some of which is… (more)

Subjects/Keywords: Zonotrichia albicollis; sexual selection; chromosome evolution; segregation distortion; candidate gene mapping

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APA (6^th Edition):

Korody, M. L. (2013). Levels of Selection in a Polymorphic Species . (Thesis). Indiana State University. Retrieved from http://hdl.handle.net/10484/5378

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Korody, Marisa L. “Levels of Selection in a Polymorphic Species .” 2013. Thesis, Indiana State University. Accessed January 26, 2021. http://hdl.handle.net/10484/5378.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Korody, Marisa L. “Levels of Selection in a Polymorphic Species .” 2013. Web. 26 Jan 2021.

Vancouver:

Korody ML. Levels of Selection in a Polymorphic Species . [Internet] [Thesis]. Indiana State University; 2013. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/10484/5378.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Korody ML. Levels of Selection in a Polymorphic Species . [Thesis]. Indiana State University; 2013. Available from: http://hdl.handle.net/10484/5378

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Texas – Austin

20. Wang, Silu. Mating evolution in Gambusia (Poeciliidae) : an integration of behavior, molecules and morphology.

Degree: MA, Ecology, Evolution and Behavior, 2014, University of Texas – Austin

URL: http://hdl.handle.net/2152/31853

► Female mate choice and male courtship display are critical behaviors for the understanding of character evolution driven by sexual selection. This thesis is designated to… (more)

▼ Female mate choice and male courtship display are critical behaviors for the understanding of character evolution driven by sexual selection. This thesis is designated to understand the evolutionary mechanism of these two behaviors with mosquito fish (Gambusia). In the first chapter, collaborated with Dr. Mark Kirkpatrick, we demonstrated positive coevolution of courtship display and morphological signatures of male coercion and male advantage in sexually antagonistic adaptation across 10 Gambusia species. This finding suggested that male display may have caused the evolution of morphologies involved in SAC, or conversely it may have evolved as a palliative byproduct of the morphologies. This unexpected observation raised new interpretation about evolutionary cause and consequence of displays across different mating systems. The second chapter examined whether neuromolecular underpinning of G. affinis female mate choice is canalized or plastic in mating systems that show variable extant of mate choice. With Dr. Mary Ramsey, we should positive correlations between gene expression and female preference strength during exposure to courting heterospecific males, but a reversed pattern following exposure to coercive heterospecific males. This suggested that the neuromolecular entities associated with female preference are plastic and responsive to different male phenotypes (courting or coercive) rather than a canalized response linked to mating system. Further, I proposed that female behavioral plasticity may involve learning because female association patterns shifted with experience/age. Compared to younger females, I find that more experienced females spend less time near coercive males but associate more with males in the presence of courters. We thus suggested a conserved learning-based neuromolecular process underlying the diversity of female mate preference across the mate choice and coercion-driven mating systems. Advisors/Committee Members: Cummings, Molly E. (advisor), Hofmann, Hans A (committee member), Ryan, Michael J (committee member).

Subjects/Keywords: Mate choice; Courtship display; Sexual conflict; Coercion; Plasticity; Candidate gene; Poecliid

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APA (6^th Edition):

Wang, S. (2014). Mating evolution in Gambusia (Poeciliidae) : an integration of behavior, molecules and morphology. (Masters Thesis). University of Texas – Austin. Retrieved from http://hdl.handle.net/2152/31853

Chicago Manual of Style (16^th Edition):

Wang, Silu. “Mating evolution in Gambusia (Poeciliidae) : an integration of behavior, molecules and morphology.” 2014. Masters Thesis, University of Texas – Austin. Accessed January 26, 2021. http://hdl.handle.net/2152/31853.

MLA Handbook (7^th Edition):

Wang, Silu. “Mating evolution in Gambusia (Poeciliidae) : an integration of behavior, molecules and morphology.” 2014. Web. 26 Jan 2021.

Vancouver:

Wang S. Mating evolution in Gambusia (Poeciliidae) : an integration of behavior, molecules and morphology. [Internet] [Masters thesis]. University of Texas – Austin; 2014. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/2152/31853.

Council of Science Editors:

Wang S. Mating evolution in Gambusia (Poeciliidae) : an integration of behavior, molecules and morphology. [Masters Thesis]. University of Texas – Austin; 2014. Available from: http://hdl.handle.net/2152/31853

University of Guelph

21. Neustaeter, Anna. Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle.

Degree: MS, Department of Animal and Poultry Science, 2015, University of Guelph

URL: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8836

► This study investigated genetic contributions to North American Holsteins affected with Spastic Syndrome. The heritability estimate for the study population was 0.26. A GWAS via… (more)

Subjects/Keywords: Spastic Syndrome; Holstein; Fine mapping; QTL detection; imputation; crampy; candidate genes

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APA (6^th Edition):

Neustaeter, A. (2015). Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle. (Masters Thesis). University of Guelph. Retrieved from https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8836

Chicago Manual of Style (16^th Edition):

Neustaeter, Anna. “Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle.” 2015. Masters Thesis, University of Guelph. Accessed January 26, 2021. https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8836.

MLA Handbook (7^th Edition):

Neustaeter, Anna. “Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle.” 2015. Web. 26 Jan 2021.

Vancouver:

Neustaeter A. Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle. [Internet] [Masters thesis]. University of Guelph; 2015. [cited 2021 Jan 26]. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8836.

Council of Science Editors:

Neustaeter A. Genome-wide Association Studies and Fine Mapping for Spastic Syndrome in Holstein Cattle. [Masters Thesis]. University of Guelph; 2015. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8836

University of Otago

22. Wilson, Julia Patti. Genetics in the Pathogenesis and Treatment of Panic and Anxiety .

Degree: 2014, University of Otago

URL: http://hdl.handle.net/10523/4754

► Mental disorders form a broad category of disease that may manifest as emotional or behavioural changes. These disorders are common globally and account for a… (more)

▼ Mental disorders form a broad category of disease that may manifest as emotional or behavioural changes. These disorders are common globally and account for a significant amount of morbidity. The most frequently occurring major category of mental disorder is the anxiety disorders, which manifest as acute (panic attacks) and/or chronic (persistent worry) anxiety. Mental disorders can be viewed as structural or chemical changes in the brain that result from a combination of genetic and environmental risk factors. Fear and stress pathways are thought to contribute to the development of anxiety disorders, as are specific neurotransmitters and neuromodulators such as serotonin, GABA (γ-amino butyric acid), cholecystokinin and adenosine. Despite this knowledge, there is still much to learn about the pathogenesis of anxiety and pharmacotherapeutic action of the drugs used to treat it. One means of investigating both of these areas is to study candidate genes. For example, cholecystokinin is a peptide that can induce panic attacks in both normal volunteers and panic disorder patients; the genes for cholecystokinin (CCK) and its two receptors (CCKAR and CCKBR) are, thus, good candidates for anxiety pathogenesis and treatment. The aims of the present study were to determine whether common variation in any of the cholecystokinin system genes is associated with panic and whether expression levels of any candidate genes were altered in neuroblastoma cell lines following 28-days exposure of antidepressant drugs that have anxiety reducing (anxiolytic) effects. The three genes from the cholecystokinin system were genotyped in a New Zealand family-based cohort (563 subjects) and analysed for association with panic and related phenotypes. HapMap data was used to select multiple variants within each gene ensuring good coverage of common variation. Significant associations were found with multiple CCKBR variants and panic, some of which met the adjusted significance threshold. Further analyses suggested that CCKAR variation might be associated with a co-morbid panic and bipolar disorder phenotype, though further research would be needed to confirm this. Antidepressant drugs are among the most commonly prescribed treatments for the long-term control of anxiety, however, there has been little research into their anxiolytic effects and even less on the anxiety-increasing effects seen in some patients early in treatment. Thus, gene expression changes of a list of 20 candidate genes were investigated in three different neuroblastoma cell lines during a 28-day time course. The two most consistent changes were down-regulations of two-fold or more in the genes ADORA2A (encoding an adenosine receptor) and CCKAR. Both of these changes began early in the time course, and functional evidence from other studies suggests that the reduced expression may have anxiety-increasing effects. Subsequent protein quantification studies supported a reduction in levels of the adenosine A2a receptor. Thus, changes in one or both of these… Advisors/Committee Members: Fitches, Alison (advisor).

Subjects/Keywords: anxiety; panic; genetics; candidate gene; association; cholecystokinin; adenosine; antidepressants; anxiolytics; gene expression; CCK; ADORA2A

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APA (6^th Edition):

Wilson, J. P. (2014). Genetics in the Pathogenesis and Treatment of Panic and Anxiety . (Doctoral Dissertation). University of Otago. Retrieved from http://hdl.handle.net/10523/4754

Chicago Manual of Style (16^th Edition):

Wilson, Julia Patti. “Genetics in the Pathogenesis and Treatment of Panic and Anxiety .” 2014. Doctoral Dissertation, University of Otago. Accessed January 26, 2021. http://hdl.handle.net/10523/4754.

MLA Handbook (7^th Edition):

Wilson, Julia Patti. “Genetics in the Pathogenesis and Treatment of Panic and Anxiety .” 2014. Web. 26 Jan 2021.

Vancouver:

Wilson JP. Genetics in the Pathogenesis and Treatment of Panic and Anxiety . [Internet] [Doctoral dissertation]. University of Otago; 2014. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/10523/4754.

Council of Science Editors:

Wilson JP. Genetics in the Pathogenesis and Treatment of Panic and Anxiety . [Doctoral Dissertation]. University of Otago; 2014. Available from: http://hdl.handle.net/10523/4754

Swedish University of Agricultural Sciences

23. Rivera, Patricio. Biochemical markers and genetic risk factors in canine tumors.

Degree: 2010, Swedish University of Agricultural Sciences

URL: http://pub.epsilon.slu.se/2280/

► One out of four dogs will develop cancer before the age of 10 years. Many of them will succumb to the disease. Risk factor analysis,… (more)

▼ One out of four dogs will develop cancer before the age of 10 years. Many of them will succumb to the disease. Risk factor analysis, tumor prevention, and ways to prognosticate already existing tumors in the individual patient, are important. Canine mammary tumors (CMTs) are the most common type of tumor in intact female dogs and constitute about half of all tumors in female dogs. About half of the CMTs are malignant. The origin of CMTs is considered to be complex, with tumor development likely influenced by both genetic and environmental factors. In Sweden 36% of English Springer spaniels (ESS) are diagnosed with CMTs, suggesting a genetic influence in this breed. Several risk factors predisposing to CMT have been identified, but the majority of inherited risk factors remain unknown. The aim of the research described in this thesis was to study biomarkers, epidemiology and genetic risk factors in canine tumors with the main focus in canine mammary tumors, using a population of a breed at high-risk for this disease in Sweden. In the first study, a study of a serum biomarker in canine tumors, serum thymidine kinase 1 (TK1) -activity in canine malignant lymphoma, leukemia and solid tumors using the standard TK REA and non-radiometric assays was performed. Serum TK1 was proven to be highly effective in diagnosing, prognosticating, and monitoring dogs with hematological neoplasias (lymphoma, leukemia), but the assay was ineffective in detecting TK1 activity in solid tumors such as CMTs. Clinical and histological characteristics of CMTs were described in a population of ESS dogs in Sweden. The reproductive status was shown as an important risk factor for MT development and age of onset and histological subtype affected the survival time after diagnosis of MT-affected dogs. Genetic risk factors for CMTs were further investigated in the following studies. A candidate gene association study in CMTs showed two human breast cancer genes, BRCA1 and BRCA2 that were associated with CMT in ESS dogs. The potential involvement of the major histocompatibility complex (MHC) class II in CMT development was studied and the results indicated diversity of MHC class II haplotypes and identified a haplotype that protected against MT development in ESS dogs. In summary, this thesis provides new information about risk factors for CMT development. The identification of genetic risk factors is critical to improvements in prevention, diagnosis and treatment of these tumors.

Subjects/Keywords: dogs; thymidine; neoplasms; diagnosis; therapy; genetic disorders; mammary gland diseases; histopathology; disease control; sweden; Thymidine kinase 1; tumor marker; breast cancer; mammary neoplasia; dog; MHC class II; DLA; candidate gene; comparative oncology; BRCA1; BRCA2

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APA (6^th Edition):

Rivera, P. (2010). Biochemical markers and genetic risk factors in canine tumors. (Doctoral Dissertation). Swedish University of Agricultural Sciences. Retrieved from http://pub.epsilon.slu.se/2280/

Chicago Manual of Style (16^th Edition):

Rivera, Patricio. “Biochemical markers and genetic risk factors in canine tumors.” 2010. Doctoral Dissertation, Swedish University of Agricultural Sciences. Accessed January 26, 2021. http://pub.epsilon.slu.se/2280/.

MLA Handbook (7^th Edition):

Rivera, Patricio. “Biochemical markers and genetic risk factors in canine tumors.” 2010. Web. 26 Jan 2021.

Vancouver:

Rivera P. Biochemical markers and genetic risk factors in canine tumors. [Internet] [Doctoral dissertation]. Swedish University of Agricultural Sciences; 2010. [cited 2021 Jan 26]. Available from: http://pub.epsilon.slu.se/2280/.

Council of Science Editors:

Rivera P. Biochemical markers and genetic risk factors in canine tumors. [Doctoral Dissertation]. Swedish University of Agricultural Sciences; 2010. Available from: http://pub.epsilon.slu.se/2280/

University of Oxford

24. Link, Emma. Genome-wide association of statin-induced myopathy.

Degree: PhD, 2009, University of Oxford

URL: http://ora.ox.ac.uk/objects/uuid:ca675486-d678-4200-8bb4-988a923e9c4c ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.504424

► Lowering LDL-cholesterol with statin therapy produces substantial reductions in cardiovascular events, and larger cholesterol reductions may produce larger benefits. Rarely, myopathy occurs with statins, especially… (more)

▼ Lowering LDL-cholesterol with statin therapy produces substantial reductions in cardiovascular events, and larger cholesterol reductions may produce larger benefits. Rarely, myopathy occurs with statins, especially at higher doses and in combination with certain medications. Similarly strong associations might exist between myopathy with high-dose statin regimens and genetic variants, especially those affecting blood statin levels. This study aimed to find genetic variants associated with statin-induced myopathy. A feasibility study was completed to assess whether plausible effect sizes of 5 to10-fold higher risks per genetic variants could be detected among 50-100 cases with statin-induced myopathy and to consider the best study design. A genome-wide association study was then carried out using approximately 300,000 genetic markers (and additional fine-mapping) in 85 people with definite or incipient myopathy and 90 controls, who were all taking 80mg simvastatin daily in a 12,000 participant trial of 80mg vs 20mg simvastatin daily. The cases were also compared to 2,300 additional controls who had not been exposed to intensive-dose statin therapy. Replication of the myopathy result and lipid-lowering associations were tested in a 20,000 participant trial of 40mg simvastatin daily versus placebo. The genome-wide scan yielded a single strong association (p = 4x10^-9) of myopathy with the rs4363657 single nucleotide polymorphism (SNP) located within the SLCO1B1 gene on chromosome 12. This non-coding SNP was in nearly complete linkage disequilibrium (r²=0.97) with the non-synonymous rs4149056 SNP. The population prevalence of the rs4149056 C allele was 15%, and the odds ratio for myopathy was 4.5 (95% confidence interval 2.6 to 7.7) for each copy of the C allele and 16.9 (4.7 to 61.1) for CC vs TT homozygotes. Over 60% of these myopathy cases could be attributed to the C variant. The SLCO1B1 gene encodes the organic anion transport polypeptide OATP1B1, which has been shown to regulate hepatic uptake of statins. In literature reports, rs4149056 reduced statin transport and was associated with 37% (31% to 44%) higher systemic statin acid levels per C allele. The association of rs4149056 with myopathy was replicated in the trial of 40mg simvastatin daily, which also showed that it was associated with the cholesterol-lowering effects of simvastatin. No SNPs in any other region were clearly associated with myopathy (although comparison of the myopathy cases with the 2,300 controls identified a region of chromosome 1p12 that warrants further study). This study identified common variants in SLCO1B1 that influence the risks of statin-induced myopathy substantially. Genotyping these variants may be useful for tailoring both the statin dose and safety monitoring. More generally, such studies of the genetic determinants of serious adverse reactions with other drug classes may help to improve the balance between treatment efficacy and safety.

Subjects/Keywords: 616.042; Medical Sciences; Cardiovascular disease; Epidemiology; Genetics (medical sciences); statin; myopathy; rhabdomyolysis; genome-wide association study; candidate gene study

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APA (6^th Edition):

Link, E. (2009). Genome-wide association of statin-induced myopathy. (Doctoral Dissertation). University of Oxford. Retrieved from http://ora.ox.ac.uk/objects/uuid:ca675486-d678-4200-8bb4-988a923e9c4c ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.504424

Chicago Manual of Style (16^th Edition):

Link, Emma. “Genome-wide association of statin-induced myopathy.” 2009. Doctoral Dissertation, University of Oxford. Accessed January 26, 2021. http://ora.ox.ac.uk/objects/uuid:ca675486-d678-4200-8bb4-988a923e9c4c ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.504424.

MLA Handbook (7^th Edition):

Link, Emma. “Genome-wide association of statin-induced myopathy.” 2009. Web. 26 Jan 2021.

Vancouver:

Link E. Genome-wide association of statin-induced myopathy. [Internet] [Doctoral dissertation]. University of Oxford; 2009. [cited 2021 Jan 26]. Available from: http://ora.ox.ac.uk/objects/uuid:ca675486-d678-4200-8bb4-988a923e9c4c ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.504424.

Council of Science Editors:

Link E. Genome-wide association of statin-induced myopathy. [Doctoral Dissertation]. University of Oxford; 2009. Available from: http://ora.ox.ac.uk/objects/uuid:ca675486-d678-4200-8bb4-988a923e9c4c ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.504424

25. Laumet, Geoffroy. Rôle des ADAM dans le processus physiopathologique de la maladie d'Alzheimer : Implication of ADAM in pathophysiological process in Alzheimer\'s disease.

Degree: Docteur es, Neurosciences, 2010, Université Lille II – Droit et Santé

URL: http://www.theses.fr/2010LIL2S032

► La maladie d’Alzheimer est une maladie neurodégénérative, elle représente 70% des formes de démences et affecte près de 860 000 personnes en France. Cette maladie… (more)

▼ La maladie d’Alzheimer est une maladie neurodégénérative, elle représente 70% des formes de démences et affecte près de 860 000 personnes en France. Cette maladie est caractérisée par deux lésions neuropathologiques : les Dégénérescences neurofibrillaires et les Plaques séniles. Ces dernières sont principalement constituées de peptides amyloïdes (Aβ) résultant du clivage d’une protéine membranaire appelée Précurseur du peptide amyloïde (APP). L’étude des formes familiales monogéniques a montré que des mutations des gènes de l’APP et des Présénilines 1 et 2 conduisaient systématiquement à une augmentation de la production d’Aβ. Cette observation a permis l’élaboration de la cascade amyloïde plaçant le métabolisme de l’APP au centre du processus physiopathologique. Même si aujourd’hui ce métabolisme commence à être relativement bien connu, plusieurs zones d’ombres subsistent encore. Dans l’optique de caractériser de nouveaux acteurs intervenant dans ce métabolisme, nous avons émis une hypothèse qui repose sur deux constatations : (i) les protéines impliquées dans l’étiologie de la maladie sont différentiellement exprimées entre les cerveaux des patients et ceux des témoins (ii) dans le cerveau, de nombreuses métalloprotéases participent aux même mécanismes que l’APP (adhésion cellulaire, neuroinflammation, plasticité neuronale...), certaines sont aussi directement actrices du métabolisme de l’APP en tant qu’α-sécrétase (ADAM9, ADAM10 et ADAM17) ou en dégradant l’Aβ (NEP, IDE, MMP2, MMP3 et MMP9). Nous avons donc supposé que les métalloprotéases présentant une différence d’expression entre le tissu cérébral des malades et celui des témoins soient des candidates intéressantes pour moduler le métabolisme et le trafic de l’APP. Une première analyse transcriptomique par biopuce, à partir d’ARN totaux issus des cerveaux de 12 malades et de 12 témoins, nous a permis d’identifier quatre métalloprotéases présentant une différence d’expression significative (p<10-5) : ADAMTS16, ADAM17, ADAM30 et ADAM33. Nous avons cherché à confirmer ce résultat par une autre technologie sur un plus grand nombre d’échantillons (malades n=52 et témoins n=42). Seules ADAM30 et ADAM33 ont pu être validées. Nous avons également pu observer que l’expression d’ADAM30 dans le tissu cérébral des malades est inversement proportionnelle à la quantité d’Aβ42 déposée dans la parenchyme (Aβ42 la forme d’Aβ la plus neurotoxique). De plus, au niveau cérébral, l’expression d’ADAM30 est restreinte aux neurones, cellules sièges du métabolisme de l’APP. Nous avons donc sélectionné ADAM30 comme intervenante potentielle dans le métabolisme de l’APP. Pour tester notre hypothèse, nous avons sous- et sur-exprimé ADAM30 dans deux modèles cellulaires différents. Nous avons mis en évidence que la sur-expression d’ADAM30 entraîne une diminution de l’ensemble des produits du métabolisme de l’APP. En mutant le site catalytique de cette protéase, nous avons remarqué que cette action sur le métabolisme de l’APP est dépendante de cette… Advisors/Committee Members: Lambert, Jean-Charles (thesis director).

Subjects/Keywords: Gène candidat; Maladie d’Alzheimer; Précurseur du peptide amyloïde; Candidate gene; Alzheimer’s disease (AD); Amyloid precursor protein (APP)

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APA (6^th Edition):

Laumet, G. (2010). Rôle des ADAM dans le processus physiopathologique de la maladie d'Alzheimer : Implication of ADAM in pathophysiological process in Alzheimer\'s disease. (Doctoral Dissertation). Université Lille II – Droit et Santé. Retrieved from http://www.theses.fr/2010LIL2S032

Chicago Manual of Style (16^th Edition):

Laumet, Geoffroy. “Rôle des ADAM dans le processus physiopathologique de la maladie d'Alzheimer : Implication of ADAM in pathophysiological process in Alzheimer\'s disease.” 2010. Doctoral Dissertation, Université Lille II – Droit et Santé. Accessed January 26, 2021. http://www.theses.fr/2010LIL2S032.

MLA Handbook (7^th Edition):

Laumet, Geoffroy. “Rôle des ADAM dans le processus physiopathologique de la maladie d'Alzheimer : Implication of ADAM in pathophysiological process in Alzheimer\'s disease.” 2010. Web. 26 Jan 2021.

Vancouver:

Laumet G. Rôle des ADAM dans le processus physiopathologique de la maladie d'Alzheimer : Implication of ADAM in pathophysiological process in Alzheimer\'s disease. [Internet] [Doctoral dissertation]. Université Lille II – Droit et Santé 2010. [cited 2021 Jan 26]. Available from: http://www.theses.fr/2010LIL2S032.

Council of Science Editors:

Laumet G. Rôle des ADAM dans le processus physiopathologique de la maladie d'Alzheimer : Implication of ADAM in pathophysiological process in Alzheimer\'s disease. [Doctoral Dissertation]. Université Lille II – Droit et Santé 2010. Available from: http://www.theses.fr/2010LIL2S032

26. 荒木, 千鶴. The evidence of genetic polymorphisms of genes involved in the P2RX7 signaling pathway as predictive biomarkers for response and loss of response to infliximab against Crohn's disease : P2RX7のシグナル伝達経路にある遺伝子の遺伝子多型はクローン病の治療薬インフリキシマブの応答性と不応答性を予測するバイオマーカーである.

Degree: 博士(薬学), 2017, Nagasaki University / 長崎大学

URL: http://hdl.handle.net/10069/37158

► Infliximab (IFX) is a chimeric anti-tumor necrosis factor-α monoclonal antibody exerting the therapeutic effect for Crohn’s disease (CD). To identify certain genes related to the… (more)

Subjects/Keywords: P2RX7 signaling pathway; single nucleotide polymorphism; infliximab; drug-responsibility gene; Crohn's disease; candidate gene-based association study; DNA-based biomarker

…infliximab against Crohn's disease Table 4. Allele and genotype comparisons in three… …Gene C/C 54 (55.7) 13 (68.4) C/A 38 (39.2) 5 (26.3… …and loss of response to infliximab against Crohn's disease IL1B Dominant 0.452… …response to infliximab against Crohn's disease rs1143630 MAF 0.144 0.184 C>A C/C 72… …disease; SNP, single nucleotide polymorphism; OR, odds ratio; CI, confidence interval; MAF…

1 more image…

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APA (6^th Edition):

荒木, �. (2017). The evidence of genetic polymorphisms of genes involved in the P2RX7 signaling pathway as predictive biomarkers for response and loss of response to infliximab against Crohn's disease : P2RX7のシグナル伝達経路にある遺伝子の遺伝子多型はクローン病の治療薬インフリキシマブの応答性と不応答性を予測するバイオマーカーである. (Thesis). Nagasaki University / 長崎大学. Retrieved from http://hdl.handle.net/10069/37158

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

荒木, 千鶴. “The evidence of genetic polymorphisms of genes involved in the P2RX7 signaling pathway as predictive biomarkers for response and loss of response to infliximab against Crohn's disease : P2RX7のシグナル伝達経路にある遺伝子の遺伝子多型はクローン病の治療薬インフリキシマブの応答性と不応答性を予測するバイオマーカーである.” 2017. Thesis, Nagasaki University / 長崎大学. Accessed January 26, 2021. http://hdl.handle.net/10069/37158.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

荒木, 千鶴. “The evidence of genetic polymorphisms of genes involved in the P2RX7 signaling pathway as predictive biomarkers for response and loss of response to infliximab against Crohn's disease : P2RX7のシグナル伝達経路にある遺伝子の遺伝子多型はクローン病の治療薬インフリキシマブの応答性と不応答性を予測するバイオマーカーである.” 2017. Web. 26 Jan 2021.

Vancouver:

荒木 �. The evidence of genetic polymorphisms of genes involved in the P2RX7 signaling pathway as predictive biomarkers for response and loss of response to infliximab against Crohn's disease : P2RX7のシグナル伝達経路にある遺伝子の遺伝子多型はクローン病の治療薬インフリキシマブの応答性と不応答性を予測するバイオマーカーである. [Internet] [Thesis]. Nagasaki University / 長崎大学; 2017. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/10069/37158.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

荒木 �. The evidence of genetic polymorphisms of genes involved in the P2RX7 signaling pathway as predictive biomarkers for response and loss of response to infliximab against Crohn's disease : P2RX7のシグナル伝達経路にある遺伝子の遺伝子多型はクローン病の治療薬インフリキシマブの応答性と不応答性を予測するバイオマーカーである. [Thesis]. Nagasaki University / 長崎大学; 2017. Available from: http://hdl.handle.net/10069/37158

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Alberta

27. Islam, Khandker Khaldun. Association analyses of SNPs in candidate genes with body fat deposition and carcass merit traits in beef cattle.

Degree: MS, Department of Agricultural, Food and Nutritional Science, 2009, University of Alberta

URL: https://era.library.ualberta.ca/files/pv63g042c

► A candidate gene approach was used to identify single nucleotide polymorphisms (SNPs) and their associations with body fat deposition and carcass merit traits in beef… (more)

Subjects/Keywords: Beef cattle; Association analyses; Body fat deposition; Carcass trait; Single nucleotide polymorphism; Candidate gene; SNP

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Islam, K. K. (2009). Association analyses of SNPs in candidate genes with body fat deposition and carcass merit traits in beef cattle. (Masters Thesis). University of Alberta. Retrieved from https://era.library.ualberta.ca/files/pv63g042c

Chicago Manual of Style (16^th Edition):

Islam, Khandker Khaldun. “Association analyses of SNPs in candidate genes with body fat deposition and carcass merit traits in beef cattle.” 2009. Masters Thesis, University of Alberta. Accessed January 26, 2021. https://era.library.ualberta.ca/files/pv63g042c.

MLA Handbook (7^th Edition):

Islam, Khandker Khaldun. “Association analyses of SNPs in candidate genes with body fat deposition and carcass merit traits in beef cattle.” 2009. Web. 26 Jan 2021.

Vancouver:

Islam KK. Association analyses of SNPs in candidate genes with body fat deposition and carcass merit traits in beef cattle. [Internet] [Masters thesis]. University of Alberta; 2009. [cited 2021 Jan 26]. Available from: https://era.library.ualberta.ca/files/pv63g042c.

Council of Science Editors:

Islam KK. Association analyses of SNPs in candidate genes with body fat deposition and carcass merit traits in beef cattle. [Masters Thesis]. University of Alberta; 2009. Available from: https://era.library.ualberta.ca/files/pv63g042c

University of Tasmania

28. Hadjigol, S. Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus.

Degree: 2012, University of Tasmania

URL: https://eprints.utas.edu.au/12930/2/Whole_thesis_030112.pdf

► Eucalyptus globulus (Myrtaceae) is a forest tree species that is native to South-eastern Australia, including the island of Tasmania. It is the main eucalypt species… (more)

▼ Eucalyptus globulus (Myrtaceae) is a forest tree species that is native to South-eastern Australia, including the island of Tasmania. It is the main eucalypt species grown in pulpwood plantations in temperate regions of the world and is being domesticated in many breeding programs. The improvement of its wood properties is a major objective of these breeding programs. As many wood properties are expensive to assess, there is increasing interest in the application of molecular breeding approaches targeting candidate genes, particularly those in the lignin and cellulose biosynthesis pathways. To assist in the identification of genes and allelic variants likely to have important phenotypic effects, this study aimed to determine whether there was a signature in the genome indicating that natural selection had caused differentiation amongst the races of E. globulus in candidate genes for wood properties. Differentiation among races based on single nucleotide polymorphisms (SNPs) within candidate genes was compared to differentiation based on microsatellite (SSR) markers. The rationale behind this approach is that if the differentiation observed in the gene-related SNPs was significantly different from that based on putatively selectively neutral markers, then this is evidence that selection maybe affecting the candidate gene. In order to do this, the genetic affinities within E. globulus (368 trees representing 42 localities partitioned into eight races from across the natural range of the species) were studied using 30 gene-based SNPs and 18 neutral nuclear SSR markers. STRUCTURE analysis based on these SSR markers showed that individuals fell into two distinctive groups (lineages). One group comprised individuals from King Island and mainland races from the Otways and Strzelecki Ranges; the second group comprised all the Tasmanian races plus the Furneaux Islands. The pattern of differentiation between races found using the neutral SSR markers was similar to that found previously, although the average FST was lower than in previous studies (FST = 0.05; 95% CI 0.041-0.063). The SNP dataset (98 SNPs from 20 genes) from the same set of samples was provided by Dr. Saravanan Thavamanikumar of the University of Melbourne. Twenty-four SNPs were excluded because their minor alleles were too rare (total minor allele frequency < 10%), also eight SNPs that were not in Hardy-Weinberg Equilibrium (HWE) were eliminated. A further 36 were excluded because positive linkage disequilibrium (LD) between SNPs within genes was found in at least one of the races. While virtually no LD was found between SNPs in some genes, the LD level varied markedly between races and between genes. Of the 30 SNPs included in the analysis, the FST values of most were within the 1-99% inter-percentile range observed for the SSR data, and the average FST (0.09; 95% CI 0.058-0.133) was not significantly different. However, 6 SNPs had FST values that were higher than the upper 99% percentile of the FST distribution for SSRs. The SNPs exhibiting signals of…

Subjects/Keywords: natural selection; wood properties; molecular approach; candidate gene; Eglobulus; single nucleotide Polymorphism (SNP)

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Hadjigol, S. (2012). Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus. (Thesis). University of Tasmania. Retrieved from https://eprints.utas.edu.au/12930/2/Whole_thesis_030112.pdf

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Hadjigol, S. “Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus.” 2012. Thesis, University of Tasmania. Accessed January 26, 2021. https://eprints.utas.edu.au/12930/2/Whole_thesis_030112.pdf.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Hadjigol, S. “Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus.” 2012. Web. 26 Jan 2021.

Vancouver:

Hadjigol S. Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus. [Internet] [Thesis]. University of Tasmania; 2012. [cited 2021 Jan 26]. Available from: https://eprints.utas.edu.au/12930/2/Whole_thesis_030112.pdf.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Hadjigol S. Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus. [Thesis]. University of Tasmania; 2012. Available from: https://eprints.utas.edu.au/12930/2/Whole_thesis_030112.pdf

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Illinois – Urbana-Champaign

29. Schafer, Kathryn Elizabeth. Candidate gene scoring to predict broad adolescent psychopathology.

Degree: MS, Psychology, 2018, University of Illinois – Urbana-Champaign

URL: http://hdl.handle.net/2142/101365

► Candidate gene effects consistently fail to replicate. However, because it is now known that most genetic effects are incredibly minute, samples of the size typically… (more)

Subjects/Keywords: behavior genetics; psychopathology; mental illness; p-factor; genetic risk score; candidate gene

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Schafer, K. E. (2018). Candidate gene scoring to predict broad adolescent psychopathology. (Thesis). University of Illinois – Urbana-Champaign. Retrieved from http://hdl.handle.net/2142/101365

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Schafer, Kathryn Elizabeth. “Candidate gene scoring to predict broad adolescent psychopathology.” 2018. Thesis, University of Illinois – Urbana-Champaign. Accessed January 26, 2021. http://hdl.handle.net/2142/101365.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Schafer, Kathryn Elizabeth. “Candidate gene scoring to predict broad adolescent psychopathology.” 2018. Web. 26 Jan 2021.

Vancouver:

Schafer KE. Candidate gene scoring to predict broad adolescent psychopathology. [Internet] [Thesis]. University of Illinois – Urbana-Champaign; 2018. [cited 2021 Jan 26]. Available from: http://hdl.handle.net/2142/101365.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Schafer KE. Candidate gene scoring to predict broad adolescent psychopathology. [Thesis]. University of Illinois – Urbana-Champaign; 2018. Available from: http://hdl.handle.net/2142/101365

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

30. He, Yuan. A Candidate Gene Study of the Association of TLR4 Polymorphisms rs4986790 and rs4986791 with HIV Disease Progression and Response to HAART Treatment in Men.

Degree: 2015, Johns Hopkins University

URL: http://jhir.library.jhu.edu/handle/1774.2/38048

► Background. Host genetic factors have been shown to be associated with the diversity in the HIV/AIDS disease progression. In addition, lipopolysaccharides (LPSs) are recognized by… (more)

▼ Background. Host genetic factors have been shown to be associated with the diversity in the HIV/AIDS disease progression. In addition, lipopolysaccharides (LPSs) are recognized by Toll-Like Receptor 4 (TLR4), and are associated with the HIV viral load in macrophages. Furthermore, TLR4 polymorphisms rs4986790 and rs4986791 have been shown to be associated with the HIV viral setpoint. Together, these findings suggest that these TLR4 polymorphisms are associated with HIV disease progression. Objective. We studied the association of the TLR4 polymorphisms rs4986790 and rs4986791 with HIV viral setpoint, and the virologic and immunological responses to HAART treatment. Methods. We designed both cross-sectional and prospective components of this cohort study to utilize men enrolled in the Multicenter AIDS Cohort Study (MACS) who had been genotyped for single nucleotide polymorphisms (SNPs) in the TLR4 region. We applied linear regression to model the HIV viral setpoint, and log-binomial regression as well as Poisson regression with robust estimation of variance to model the virologic and immunological responses to HAART. Results. The results suggest that the two TLR4 SNPs have protective effects in terms of decreased HIV setpoint in a recessive model. The mean log10 HIV viral setpoint among men with rs4986791-TT was 0.11 lower than that among men with at least one C allele, and the mean log10 HIV setpoint among men with rs4986790-GG was 0.30 lower than that among men with at least one A allele. For the virologic response to HAART, we found that the probability of achieving an undetectable HIV RNA level within two years of HAART initiation was 47% higher among men with rs4986791-TT compared to men with at least one C at rs4986791 adjusting for cofactors, while the probability of achieving an undetectable HIV RNA level within two years of HAART initiation was 40% higher among men with rs4986790-GG compared to men with at least one A at rs4986790 adjusting for cofactors. In contrast, the two TLR4 SNPs were not associated with the immunological response of achieving 100 cells/microliters increase in CD4+ T cells within two years following HAART treatment. Conclusions. The results from this study are in accordance with previous findings that rs4986790 and rs4986791 were associated with HIV viral load, and they extended that observation by suggesting that TLR4 genotype might also be associated with achieving undetectable viral load after HAART treatment. This novel observation needs to be confirmed in other cohorts. Advisors/Committee Members: Seaberg, Eric C (advisor).

Subjects/Keywords: HIV; HAART; candidate gene study

…risk of transmission has made the disease silently spread out in the population. In 2012, the… …active transcription regions, which may lead to active gene expression8. HIV infection in the… …the viral set point is associated with the speed of the disease progression as well as the… …risk of transmission, it is sometimes treated as a surrogate for the disease progression22… …HIV disease progression can be influenced by a variety of factors, including genetic factors…

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

He, Y. (2015). A Candidate Gene Study of the Association of TLR4 Polymorphisms rs4986790 and rs4986791 with HIV Disease Progression and Response to HAART Treatment in Men. (Thesis). Johns Hopkins University. Retrieved from http://jhir.library.jhu.edu/handle/1774.2/38048

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

He, Yuan. “A Candidate Gene Study of the Association of TLR4 Polymorphisms rs4986790 and rs4986791 with HIV Disease Progression and Response to HAART Treatment in Men.” 2015. Thesis, Johns Hopkins University. Accessed January 26, 2021. http://jhir.library.jhu.edu/handle/1774.2/38048.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

He, Yuan. “A Candidate Gene Study of the Association of TLR4 Polymorphisms rs4986790 and rs4986791 with HIV Disease Progression and Response to HAART Treatment in Men.” 2015. Web. 26 Jan 2021.

Vancouver:

He Y. A Candidate Gene Study of the Association of TLR4 Polymorphisms rs4986790 and rs4986791 with HIV Disease Progression and Response to HAART Treatment in Men. [Internet] [Thesis]. Johns Hopkins University; 2015. [cited 2021 Jan 26]. Available from: http://jhir.library.jhu.edu/handle/1774.2/38048.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

He Y. A Candidate Gene Study of the Association of TLR4 Polymorphisms rs4986790 and rs4986791 with HIV Disease Progression and Response to HAART Treatment in Men. [Thesis]. Johns Hopkins University; 2015. Available from: http://jhir.library.jhu.edu/handle/1774.2/38048

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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Open Access Theses and Dissertations