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Abstract #27527 Published in IGR 12-4
Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG
McDonald KK; Abramson K; Beltran MA; Ramirez MG; Alvarez M; Ventura A; Santiago-Turla C; Schmidt S; Hauser MA; Allingham RRJournal of Human Genetics 2010; 55: 697-700
Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrelated POAG cases and nonglaucomatous controls in a population of Hispanics of Mexican descent. Ascertainment criteria for POAG included the presence of glaucomatous optic neuropathy with associated visual field loss and the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields and intraocular pressure. All coding exons of MYOC and OPTN were sequenced. The data set consisted of 88 POAG cases and 93 controls. A novel nonsynonymous coding variant (R7H) in the first exon of MYOC was identified. Other identified variants in MYOC and OPTN have been previously described and do not seem to contribute to POAG risk. This is the first comprehensive study of MYOC and OPTN in Hispanics of Mexican descent with POAG. Neither MYOC nor OPTN sequence variants seem to have a major role in the etiology of POAG in this population. (copyright) 2010 The Japan Society of Human Genetics All rights reserved.
K. K. McDonald. Center for Human Genetics, Duke University Medical Center, 905 S. LaSalle Street, Durham, NC 27710, United States. kkm8@duke.edu
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
1.2 Population genetics (Part of: 1 General aspects)
