Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

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...

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Main Authors: 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.
Format: Online
Language:English
Published: 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177327/
id pubmed-4177327
recordtype oai_dc
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. 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
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
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.
spellingShingle 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
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
title 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_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_sort common variants near abca1, afap1 and gmds confer risk of primary open-angle glaucoma
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.
publishDate 2014
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177327/
_version_ 1613138072849874944

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