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Vanderbilt University

1. Hoffman, Joshua David. Modeling Macular Degeneration Using Quantitative Phenotypes.

Degree: PhD, Human Genetics, 2015, Vanderbilt University

Age-related macular degeneration (AMD) is one of the most common causes of visual impairment in the United States (US). Although a multitude of studies have shown that both genetic and environmental factors contribute to the pathogenesis of AMD, little is known on how genetics affects the disease’s rate of progression. We performed a quantitative genetic analysis of drusen progression during the intermediate stage of the disease to understand the role of known AMD genetic variation to this phenotype. Drusen progression was tested against 19 previously identified genetic variants using a cumulative genetic risk score, single variant analyses, and a pathway analysis. We do not observe significant correlation between the 19 variant cumulative genetic risk score and drusen progression (rho = 0.039; p = 0.543). Single marker tests of the remaining 15 variants shows a nominally significant association with rs943080 in VEGFA (p = 0.028). The most highly associated pathway in our pathway analysis is the cell adhesion molecule pathway (p < 0.0001). To understand the contribution of rare-genetic variation to AMD, we performed exome sequencing in five members of a small nuclear Amish family who lack the common risk alleles at the major AMD risk loci. We identified a variant (P503A) in CFH that is not present in dbSNP or 1000Genomes and is associated with AMD in an Ohio and Indiana cohort (p = 9.27x10-13). Advisors/Committee Members: Milam A. Brantley (committee member), Chun Li (committee member), Jonathan L. Haines (committee member), David C. Samuels (committee member), Tricia A. Thornton-Wells (Committee Chair).

Subjects/Keywords: AMD; genetics; Age-Related Macular Degeneration; genomics; assocation analysis; linkage analysis

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

APA (6th Edition):

Hoffman, J. D. (2015). Modeling Macular Degeneration Using Quantitative Phenotypes. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10680

Chicago Manual of Style (16th Edition):

Hoffman, Joshua David. “Modeling Macular Degeneration Using Quantitative Phenotypes.” 2015. Doctoral Dissertation, Vanderbilt University. Accessed February 28, 2021. http://hdl.handle.net/1803/10680.

MLA Handbook (7th Edition):

Hoffman, Joshua David. “Modeling Macular Degeneration Using Quantitative Phenotypes.” 2015. Web. 28 Feb 2021.

Vancouver:

Hoffman JD. Modeling Macular Degeneration Using Quantitative Phenotypes. [Internet] [Doctoral dissertation]. Vanderbilt University; 2015. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1803/10680.

Council of Science Editors:

Hoffman JD. Modeling Macular Degeneration Using Quantitative Phenotypes. [Doctoral Dissertation]. Vanderbilt University; 2015. Available from: http://hdl.handle.net/1803/10680

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