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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 advanced POAG cases and 1,992 controls. Association of the top SNPs from the discovery stage was investigated in tw...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177327/ https://www.ncbi.nlm.nih.gov/pubmed/25173105 http://dx.doi.org/10.1038/ng.3079 |
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| author | Gharahkhani, Puya Burdon, Kathryn P Fogarty, Rhys Sharma, Shiwani Hewitt, Alex W. Martin, Sarah Law, Matthew H. Cremin, Katie Bailey, Jessica N. Cooke Loomis, Stephanie J. Pasquale, Louis R. Haines, Jonathan L. Hauser, Michael A. Viswanathan, Ananth C. McGuffin, Peter Topouzis, Fotis Foster, Paul J. Graham, Stuart L Casson, Robert J Chehade, Mark White, Andrew J Zhou, Tiger Souzeau, Emmanuelle Landers, John Fitzgerald, Jude T Klebe, Sonja Ruddle, Jonathan B Goldberg, Ivan Healey, Paul R Mills, Richard A. Wang, Jie Jin Montgomery, Grant W. Martin, Nicholas G. RadfordSmith, Graham Whiteman, David C. Brown, Matthew A. Wiggs, Janey L. Mackey, David A Mitchell, Paul MacGregor, Stuart Craig, Jamie E. |
| author_facet | Gharahkhani, Puya Burdon, Kathryn P Fogarty, Rhys Sharma, Shiwani Hewitt, Alex W. Martin, Sarah Law, Matthew H. Cremin, Katie Bailey, Jessica N. Cooke Loomis, Stephanie J. Pasquale, Louis R. Haines, Jonathan L. Hauser, Michael A. Viswanathan, Ananth C. McGuffin, Peter Topouzis, Fotis Foster, Paul J. Graham, Stuart L Casson, Robert J Chehade, Mark White, Andrew J Zhou, Tiger Souzeau, Emmanuelle Landers, John Fitzgerald, Jude T Klebe, Sonja Ruddle, Jonathan B Goldberg, Ivan Healey, Paul R Mills, Richard A. Wang, Jie Jin Montgomery, Grant W. Martin, Nicholas G. RadfordSmith, Graham Whiteman, David C. Brown, Matthew A. Wiggs, Janey L. Mackey, David A Mitchell, Paul MacGregor, Stuart Craig, Jamie E. |
| author_sort | Gharahkhani, Puya |
| collection | PubMed |
| description | Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 advanced POAG cases and 1,992 controls. Association of the top SNPs from the discovery stage was investigated in two Australian replication cohorts (total 932 cases, 6,862 controls) and two US replication cohorts (total 2,616 cases, 2,634 controls). Meta-analysis of all cohorts revealed three novel loci associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493 [G] OR=1.31, P= 2.1 × 10(-19)), within AFAP1 (rs4619890 [G] OR=1.20, P= 7.0 × 10(-10)) and within GMDS (rs11969985 [G] OR=1.31, and P= 7.7 × 10(-10)). Using RT-PCR and immunolabelling, we also showed that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells. |
| format | Online Article Text |
| id | pubmed-4177327 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-41773272015-04-01 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma Gharahkhani, Puya Burdon, Kathryn P Fogarty, Rhys Sharma, Shiwani Hewitt, Alex W. Martin, Sarah Law, Matthew H. Cremin, Katie Bailey, Jessica N. Cooke Loomis, Stephanie J. Pasquale, Louis R. Haines, Jonathan L. Hauser, Michael A. Viswanathan, Ananth C. McGuffin, Peter Topouzis, Fotis Foster, Paul J. Graham, Stuart L Casson, Robert J Chehade, Mark White, Andrew J Zhou, Tiger Souzeau, Emmanuelle Landers, John Fitzgerald, Jude T Klebe, Sonja Ruddle, Jonathan B Goldberg, Ivan Healey, Paul R Mills, Richard A. Wang, Jie Jin Montgomery, Grant W. Martin, Nicholas G. RadfordSmith, Graham Whiteman, David C. Brown, Matthew A. Wiggs, Janey L. Mackey, David A Mitchell, Paul MacGregor, Stuart Craig, Jamie E. Nat Genet Article Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 advanced POAG cases and 1,992 controls. Association of the top SNPs from the discovery stage was investigated in two Australian replication cohorts (total 932 cases, 6,862 controls) and two US replication cohorts (total 2,616 cases, 2,634 controls). Meta-analysis of all cohorts revealed three novel loci associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493 [G] OR=1.31, P= 2.1 × 10(-19)), within AFAP1 (rs4619890 [G] OR=1.20, P= 7.0 × 10(-10)) and within GMDS (rs11969985 [G] OR=1.31, and P= 7.7 × 10(-10)). Using RT-PCR and immunolabelling, we also showed that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells. 2014-08-31 2014-10 /pmc/articles/PMC4177327/ /pubmed/25173105 http://dx.doi.org/10.1038/ng.3079 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download 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 Gharahkhani, Puya Burdon, Kathryn P Fogarty, Rhys Sharma, Shiwani Hewitt, Alex W. Martin, Sarah Law, Matthew H. Cremin, Katie Bailey, Jessica N. Cooke Loomis, Stephanie J. Pasquale, Louis R. Haines, Jonathan L. Hauser, Michael A. Viswanathan, Ananth C. McGuffin, Peter Topouzis, Fotis Foster, Paul J. Graham, Stuart L Casson, Robert J Chehade, Mark White, Andrew J Zhou, Tiger Souzeau, Emmanuelle Landers, John Fitzgerald, Jude T Klebe, Sonja Ruddle, Jonathan B Goldberg, Ivan Healey, Paul R Mills, Richard A. Wang, Jie Jin Montgomery, Grant W. Martin, Nicholas G. RadfordSmith, Graham Whiteman, David C. Brown, Matthew A. Wiggs, Janey L. Mackey, David A Mitchell, Paul MacGregor, Stuart Craig, Jamie E. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma |
| title | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma |
| title_full | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma |
| title_fullStr | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma |
| title_full_unstemmed | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma |
| title_short | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma |
| title_sort | common variants near abca1, afap1 and gmds confer risk of primary open-angle glaucoma |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177327/ https://www.ncbi.nlm.nih.gov/pubmed/25173105 http://dx.doi.org/10.1038/ng.3079 |
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