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You searched for subject:(geneettinen epidemiologia). Showing records 1 – 3 of 3 total matches.

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University of Helsinki

1. Tikkanen, Emmi. Genetic risk profiles for coronary heart disease.

Degree: Hjelt Institute; Suomen molekyylilääketieteen instituutti (FIMM), 2013, University of Helsinki

Coronary heart disease (CHD) is a major burden for public health worldwide. Several factors are known to be associated with the disease risk, including high levels of low-density lipoprotein (LDL) cholesterol and blood pressure. The established risk factors do not, however, fully predict an individual s risk for the disease. In recent years, new candidate risk factors, including genetic markers, have been extensively studied. Genome-wide association studies (GWASs) have mapped over 40 genetic regions for CHD risk and hundreds of loci for CHD risk factors. The impact of these findings on public health remains obscure. In this study, we utilized the findings from large-scale GWASs and constructed genetic risk scores (GRSs) based on panels of single-nucleotide polymorphisms (SNPs). The aim was to estimate the joint effects of common genetic markers on CHD and its risk factors, and to evaluate the incremental value of genetic information in CHD risk assessment. In Projects I and II, we studied longitudinal effects of genetic loci associated with lipids and blood pressure, and evaluated the prediction of dyslipidemia and hypertension in young adults by using the genetic information in addition to clinical measurements. Our results show that the GRSs were significantly associated with longitudinal measurements of lipid traits and blood pressure throughout childhood, adolescence and adulthood. For some traits, the genetic effect was not consistent across age groups. For example, the GRS effect for high-density lipoprotein (HDL) cholesterol was considerably larger in children than in adults, and the proportion of variance explained by the SNPs in children was twice as much as in adults. The GRS for triglycerides improved the prediction of dyslipidemia in young adults when added to childhood lipid measurement. The blood pressure GRS increased the risk of hypertension, but did not improve risk discrimination over other risk factors. In Projects III and IV, we found that the GRSs based on CHD SNPs predicted CHD events. The estimated relative risk for the GRS was similar in magnitude to the relative risk of other risk factors such as systolic blood pressure. The genetic effect was independent of family history of the disease, which has been used as a surrogate for genetic risk in many prediction algorithms. The GRS based on 28 SNPs improved the prediction of CHD events beyond traditional risk factors and family history when evaluated with reclassification or discrimination metrics. Genetic screening could be especially useful for individuals in the intermediate-risk group (10-year risk 10-20%), as current preventive strategies are focused mainly on the high-risk group (>20%). In conclusion, these findings suggest that the genetic information obtained from GWASs could be used in early identification of individuals at increased risk for lipid disorders, hypertension and CHD. Keywords: cardiovascular disease, genetic association, genetic epidemiology, risk factor

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Subjects/Keywords: geneettinen epidemiologia; geneettinen epidemiologia

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

APA (6th Edition):

Tikkanen, E. (2013). Genetic risk profiles for coronary heart disease. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/41578

Chicago Manual of Style (16th Edition):

Tikkanen, Emmi. “Genetic risk profiles for coronary heart disease.” 2013. Doctoral Dissertation, University of Helsinki. Accessed July 19, 2019. http://hdl.handle.net/10138/41578.

MLA Handbook (7th Edition):

Tikkanen, Emmi. “Genetic risk profiles for coronary heart disease.” 2013. Web. 19 Jul 2019.

Vancouver:

Tikkanen E. Genetic risk profiles for coronary heart disease. [Internet] [Doctoral dissertation]. University of Helsinki; 2013. [cited 2019 Jul 19]. Available from: http://hdl.handle.net/10138/41578.

Council of Science Editors:

Tikkanen E. Genetic risk profiles for coronary heart disease. [Doctoral Dissertation]. University of Helsinki; 2013. Available from: http://hdl.handle.net/10138/41578


University of Helsinki

2. Harjutsalo, Valma. Familial aggregation of type 1 diabetes and diabetic nephropathy in Finland.

Degree: Department of Public Health; National Public Health Institute, 2007, University of Helsinki

Type 1 diabetes (T1D) is a common, multifactorial disease with strong familial clustering. In Finland, the incidence of T1D among children aged 14 years or under is the highest in the world. The increase in incidence has been approximately 2.4% per year. Although most new T1D cases are sporadic the first-degree relatives are at an increased risk of developing the same disease. This study was designed to examine the familial aggregation of T1D and one of its serious complications, diabetic nephropathy (DN). More specifically the study aimed (1) to determine the concordance rates of T1D in monozygotic (MZ) and dizygotic (DZ) twins and to estimate the relative contributions of genetic and environmental factors to the variability in liability to T1D as well as to study the age at onset of diabetes in twins; (2) to obtain long-term empirical estimates of the risk of T1D among siblings of T1D patients and the factors related to this risk, especially the effect of age at onset of diabetes in the proband and the birth cohort effect; (3) to establish if DN is aggregating in a Finnish population-based cohort of families with multiple cases of T1D, and to assess its magnitude and particularly to find out whether the risk of DN in siblings is varying according to the severity of DN in the proband and/or the age at onset of T1D: (4) to assess the recurrence risk of T1D in the offspring of a Finnish population-based cohort of patients with childhood onset T1D, and to investigate potential sex-related effects in the transmission of T1D from the diabetic parents to their offspring as well as to study whether there is a temporal trend in the incidence. The study population comprised of the Finnish Young Twin Cohort (22,650 twin pairs), a population-based cohort of patients with T1D diagnosed at the age of 17 years or earlier between 1965 and 1979 (n=5,144) and all their siblings (n=10,168) and offspring (n=5,291). A polygenic, multifactorial liability model was fitted to the twin data. Kaplan-Meier analyses were used to provide the cumulative incidence for the development of T1D and DN. Cox s proportional hazards models were fitted to the data. Poisson regression analysis was used to evaluate temporal trends in incidence. Standardized incidence ratios (SIRs) between the first-degree relatives of T1D patients and background population were determined. The twin study showed that the vast majority of affected MZ twin pairs remained discordant. Pairwise concordance for T1D was 27.3% in MZ and 3.8% in DZ twins. The probandwise concordance estimates were 42.9% and 7.4%, respectively. The model with additive genetic and individual environmental effects was the best-fitting liability model to T1D, with 88% of the phenotypic variance due to genetic factors. The second paper showed that the 50-year cumulative incidence of T1D in the siblings of diabetic probands was 6.9%. A young age at diagnosis in the probands considerably increased the risk. If the proband was diagnosed at the age of 0-4, 5-9, 10-14, 15 or more, the corresponding…

Subjects/Keywords: geneettinen epidemiologia; geneettinen epidemiologia

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

APA (6th Edition):

Harjutsalo, V. (2007). Familial aggregation of type 1 diabetes and diabetic nephropathy in Finland. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/20341

Chicago Manual of Style (16th Edition):

Harjutsalo, Valma. “Familial aggregation of type 1 diabetes and diabetic nephropathy in Finland.” 2007. Doctoral Dissertation, University of Helsinki. Accessed July 19, 2019. http://hdl.handle.net/10138/20341.

MLA Handbook (7th Edition):

Harjutsalo, Valma. “Familial aggregation of type 1 diabetes and diabetic nephropathy in Finland.” 2007. Web. 19 Jul 2019.

Vancouver:

Harjutsalo V. Familial aggregation of type 1 diabetes and diabetic nephropathy in Finland. [Internet] [Doctoral dissertation]. University of Helsinki; 2007. [cited 2019 Jul 19]. Available from: http://hdl.handle.net/10138/20341.

Council of Science Editors:

Harjutsalo V. Familial aggregation of type 1 diabetes and diabetic nephropathy in Finland. [Doctoral Dissertation]. University of Helsinki; 2007. Available from: http://hdl.handle.net/10138/20341


Tampere University

3. Khabarova, Yulia. Adult-type hypolactasia in North-West Russia .

Degree: 2013, Tampere University

Aikuistyypin laktoosi-intoleranssi Luoteis-Venäjällä Aikuistyypin hypolaktasia (primaari laktoosimalabsorptio, laktoosi-intoleranssi) on ihmisen yleisin entsyyminpuutos. Sitä esiintyy kaikissa maailman väestöissä. Yleisyys vaihtelee huomattavasti eri etnisten ryhmien välillä. Aikuistyypin hypolaktasia saattaa johtaa erilaisten vatsavaivojen kuten ripulin, ilmavaivojen, äänekkään suoliston, pahoinvoinnin, turvotuksen ja vatsan kouristuksien esiintymiseen. Hypolaktasia on resessiivisesti periytyvä entsyyminpuutostila. C/C-13910-genotyyppiä olevien homotsygoottien yksilöiden ohutsuolen laktaasiaktiviteetti on erittäin vähäinen. Sen sijaan C/T-13910-heterotsygooteilla sekä T-alleelia kantavilla homotsygooteilla (T/T-13910) suolen laktaasiaktiviteetti on korkea. Laktaasientsyymin aktiviteetin säilyminen aikuisiälle mahdollistui mutaation seurauksena. C/C-13910-genotyypin ja aikuistyypin hypolaktasian määrittävä geenitesti kehitettiin vuonna 2002. Aikuistyypin hypolaktasian esiintyvyyttä pohjoisvenäläisten ja nenetsien alkuperäiskansan keskuudessa tutkittiin tyypittämällä laktaasigeenin variantteja. Havaitsimme, että 36 prosentilla pohjoisvenäläisistä ja 90 prosentilla nenetseistä on hypolaktasian genotyyppi. Tutkimme myös C/C-13910-geenin yhteyttä ruoansulatuskanavan oireiden ilmenemiseen sekä maidonkulutuksen yleisyyteen venäläisväestössä. Havaitsimme, että C/C-homotsygooteilla on enemmän maidosta aiheutuvia ruoansulatuskanavan oireita kuin muilla geenivarianteilla. Maidon lisäksi myös muut testatut ruoka-aineet aiheuttivat oireita C/C-13910-genotyyppiä edustaville tutkittaville. Lisäksi heidän joukossaan oli vähemmän maitotuotteita käyttäviä henkilöitä verrattuna C/T- ja T/T- genotyypin edustajiin. Löysimme G>A-13914- geenivariantin potilaalta, jolla C/C-genotyyppi oli 13910-positiossa. Muunnos sijaitsee 13914 emäsparin päässä laktaasigeeniä edeltävästä sekvenssikohdasta. Löysimme saman alleelin myös tämän henkilön kolmelta perheenjäseneltä. Aiemmin tämä variantti on löydetty ainoastaan kahdelta keskieurooppalaiselta tutkittavalta. Variantin merkitys kuvattiin kuitenkin ensimmäisen kerran vasta käsillä olevassa tutkimuksessa. Mittasimme tutkittavan ohutsuolen laktaasiaktiviteetin ja huomasimme heterotsygoottivariantin olevan yhteydessä kohonneeseen laktaasiaktiviteettiin. Tämä viittaa siihen, että kohonnut laktaasiaktiviteetti todennäköisesti liittyy nimenomaan G>A-13914- varianttiin. Nenetsitutkimuksessa määritimme syntyperäisten nenetsien määrän isovanhempien syntyperän perusteella sekä määrittämällä C/C-13910-genotyypin esiintyvyyden niiden nenetsien keskuudessa, joilla oli kaksi, kolme tai neljä nenetsiesi-isää. Tällaista lähestymistapaa käytettiin nyt ensimmäistä kertaa hypolaktasiatutkimuksessa. Havaitsimme, että niillä nenetseillä, joilla oli vain nenetsiesi-isiä aiemmissa sukupolvissa oli myös eniten hypolaktasiaa. Muiden nenetsien keskuudessa hypolaktasian esiintyvyys väheni nenetsiesi-isien lukumäärän laskiessa. Käytämme tutkimuksessamme käsitettä etninen sen biologisessa merkityksessä. …

Subjects/Keywords: hypolaktasia; laktoosi-intoleranssi; geneettinen epidemiologia; maitovalmisteiden käyttö; hypolactasia; lactose intolerance; genotyping; milk consumption; nomadic Nenets

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

APA (6th Edition):

Khabarova, Y. (2013). Adult-type hypolactasia in North-West Russia . (Doctoral Dissertation). Tampere University. Retrieved from http://tampub.uta.fi/handle/10024/94668

Chicago Manual of Style (16th Edition):

Khabarova, Yulia. “Adult-type hypolactasia in North-West Russia .” 2013. Doctoral Dissertation, Tampere University. Accessed July 19, 2019. http://tampub.uta.fi/handle/10024/94668.

MLA Handbook (7th Edition):

Khabarova, Yulia. “Adult-type hypolactasia in North-West Russia .” 2013. Web. 19 Jul 2019.

Vancouver:

Khabarova Y. Adult-type hypolactasia in North-West Russia . [Internet] [Doctoral dissertation]. Tampere University; 2013. [cited 2019 Jul 19]. Available from: http://tampub.uta.fi/handle/10024/94668.

Council of Science Editors:

Khabarova Y. Adult-type hypolactasia in North-West Russia . [Doctoral Dissertation]. Tampere University; 2013. Available from: http://tampub.uta.fi/handle/10024/94668

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