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., Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD Consortium, Mills, Richard A., Wang, Jie Jin, Montgomery, Grant W., Martin, Nicholas G., Radford-Smith, Graham, Whiteman, David C., Brown, Matthew A., Wiggs, Janey L., Mackey, David A., Mitchell, Paul, MacGregor, Stuart and Craig, Jamie E. (2014) Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nature Genetics, 46 10: 1120-1125. doi: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.
Wellcome Trust Case Control Consortium 2
Mills, Richard A.
Wang, Jie Jin
Montgomery, Grant W.
Martin, Nicholas G.
Radford-Smith, Graham
Whiteman, David C.
Brown, Matthew A.
Wiggs, Janey L.
Mackey, David A.
Mitchell, Paul
MacGregor, Stuart
Craig, Jamie E.
Title Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Formatted title
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2014-10-01
Sub-type Article (original research)
DOI 10.1038/ng.3079
Open Access Status Not Open Access
Volume 46
Issue 10
Start page 1120
End page 1125
Total pages 6
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Abstract 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 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (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, P = 7.7 × 10−10). Using RT-PCR and immunolabeling, we show 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.
Keyword Genome-Wide Association
Trabecular Meshwork
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 43 times in Thomson Reuters Web of Science Article | Citations
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