title: Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.
abstract: 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.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. kkm8@duke.edu
authors.forename: Kristin K
authors.initials: KK
authors.lastname: McDonald
authors.forename: Karen
authors.initials: K
authors.lastname: Abramson
authors.forename: Marco A
authors.initials: MA
authors.lastname: Beltran
authors.forename: Maria G
authors.initials: MG
authors.lastname: Ramirez
authors.forename: Miguel
authors.initials: M
authors.lastname: Alvarez
authors.forename: Alice
authors.initials: A
authors.lastname: Ventura
authors.forename: Cecilia
authors.initials: C
authors.lastname: Santiago-Turla
authors.forename: Silke
authors.initials: S
authors.lastname: Schmidt
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
mesh_terms: D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D017058:Mexican Americans / Q000706:statistics & numerical data*; D008800:Mexico / Q000208:ethnology; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human