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.
| Identifer | oai:union.ndltd.org:VANDERBILT/oai:VANDERBILTETD:etd-03202015-210306 |
| Date | 23 March 2015 |
| Creators | Restrepo, Nicole Ann |
| Contributors | Milam A. Brantley, Dana C. Crawford, David J. Calkins, Bingshan Li, Jonathan L. Haines |
| Publisher | VANDERBILT |
| Source Sets | Vanderbilt University Theses |
| Language | English |
| Detected Language | English |
| Type | text |
| Format | application/pdf |
| Source | http://etd.library.vanderbilt.edu/available/etd-03202015-210306/ |
| Rights | restrictsix, I hereby certify that, if appropriate, I have obtained and attached hereto a written permission statement from the owner(s) of each third party copyrighted matter to be included in my thesis, dissertation, or project report, allowing distribution as specified below. I certify that the version I submitted is the same as that approved by my advisory committee. I hereby grant to Vanderbilt University or its agents the non-exclusive license to archive and make accessible, under the conditions specified below, my thesis, dissertation, or project report in whole or in part in all forms of media, now or hereafter known. I retain all other ownership rights to the copyright of the thesis, dissertation or project report. I also retain the right to use in future works (such as articles or books) all or part of this thesis, dissertation, or project report. |
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