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Title page for ETD etd-03202015-210306

Type of Document Dissertation
Author Restrepo, Nicole Ann
URN etd-03202015-210306
Title Investigation of the genetic epidemiology of age-related macular degeneration, primary open-angle glaucoma, and diabetic retinopathy in diverse populations
Degree PhD
Department Human Genetics
Advisory Committee
Advisor Name Title
David J. Calkins Committee Chair
Bingshan Li Committee Member
Dana C. Crawford Committee Member
Jonathan L. Haines Committee Member
Milam A. Brantley Committee Member
  • African American
  • diabetic retinopathy
  • primary open angle glaucoma
  • age-related macular degeneration
  • Mexican American
Date of Defense 2015-03-04
Availability unrestricted
Common age, related eye diseases are a major driving force behind vision disability and blindness. The three most common diseases afflicting Americans today are age-related macular degeneration (AMD), primary open-angle glaucoma (POAG), and diabetic retinopathy (DR). Much is known about the environmental factors contributing to disease risk and progression in these conditions, but the genetic architecture remains elusive. We performed a meta-analysis of known AMD-related variants and variants in cholesterol pathways in the three major race-ethnicities in the United States, and Chinese and Malay individuals from Singapore. Additionally, we identified potential novel associations between mitochondrial variants and risk of AMD in NHANES Mexican Americans. African American case and control samples for POAG and DR were extracted from the Vanderbilt de-identified electronic medical records system called the “Synthetic Derivative.” A large subset of these individuals were genotyped on the Illumina Metabochip array. Genetic association analyses were performed to replicate previously identified and novel associations in patients with POAG and separately for patients with DR. Nominally significant associations ( p < 10-4) in POAG analyses suggest that vascular and angiogenic pathways may play a role in POAG risk in African Americans. In the study of DR, variants located in genes known to play a role in epithelial and endothelial tight cellular junctions, wound healing were nominally associated in the Synthetic Derivative African American DR population.
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