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Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG
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/con...
Autores principales: | , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967733/ https://www.ncbi.nlm.nih.gov/pubmed/20668460 http://dx.doi.org/10.1038/jhg.2010.91 |
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author | McDonald, Kristin K. Abramson, Karen Beltran, Marco A. Ramirez, Maria G. Alvarez, Miguel Ventura, Alice Santiago-Turla, Cecilia Schmidt, Silke Hauser, Michael A. Allingham, R. Rand |
author_facet | McDonald, Kristin K. Abramson, Karen Beltran, Marco A. Ramirez, Maria G. Alvarez, Miguel Ventura, Alice Santiago-Turla, Cecilia Schmidt, Silke Hauser, Michael A. Allingham, R. Rand |
author_sort | McDonald, Kristin K. |
collection | PubMed |
description | 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 non-glaucomatous 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 IOP. All coding exons of MYOC and OPTN were sequenced. The dataset 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 appear 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 appear to play a major role in the etiology of POAG in this population. |
format | Text |
id | pubmed-2967733 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
record_format | MEDLINE/PubMed |
spelling | pubmed-29677332011-04-01 Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG McDonald, Kristin K. Abramson, Karen Beltran, Marco A. Ramirez, Maria G. Alvarez, Miguel Ventura, Alice Santiago-Turla, Cecilia Schmidt, Silke Hauser, Michael A. Allingham, R. Rand J Hum Genet Article 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 non-glaucomatous 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 IOP. All coding exons of MYOC and OPTN were sequenced. The dataset 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 appear 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 appear to play a major role in the etiology of POAG in this population. 2010-07-29 2010-10 /pmc/articles/PMC2967733/ /pubmed/20668460 http://dx.doi.org/10.1038/jhg.2010.91 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
spellingShingle | Article McDonald, Kristin K. Abramson, Karen Beltran, Marco A. Ramirez, Maria G. Alvarez, Miguel Ventura, Alice Santiago-Turla, Cecilia Schmidt, Silke Hauser, Michael A. Allingham, R. Rand Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG |
title | Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG |
title_full | Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG |
title_fullStr | Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG |
title_full_unstemmed | Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG |
title_short | Myocilin and optineurin coding variants in Hispanics of Mexican Descent with POAG |
title_sort | myocilin and optineurin coding variants in hispanics of mexican descent with poag |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967733/ https://www.ncbi.nlm.nih.gov/pubmed/20668460 http://dx.doi.org/10.1038/jhg.2010.91 |
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