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dc.contributor.authorGharahkhani, Puyaen_US
dc.contributor.authorBurdon, Kathryn Pen_US
dc.contributor.authorFogarty, Rhysen_US
dc.contributor.authorSharma, Shiwanien_US
dc.contributor.authorHewitt, Alex W.en_US
dc.contributor.authorMartin, Sarahen_US
dc.contributor.authorLaw, Matthew H.en_US
dc.contributor.authorCremin, Katieen_US
dc.contributor.authorBailey, Jessica N. Cookeen_US
dc.contributor.authorLoomis, Stephanie J.en_US
dc.contributor.authorPasquale, Louis R.en_US
dc.contributor.authorHaines, Jonathan L.en_US
dc.contributor.authorHauser, Michael A.en_US
dc.contributor.authorViswanathan, Ananth C.en_US
dc.contributor.authorMcGuffin, Peteren_US
dc.contributor.authorTopouzis, Fotisen_US
dc.contributor.authorFoster, Paul J.en_US
dc.contributor.authorGraham, Stuart Len_US
dc.contributor.authorCasson, Robert Jen_US
dc.contributor.authorChehade, Marken_US
dc.contributor.authorWhite, Andrew Jen_US
dc.contributor.authorZhou, Tigeren_US
dc.contributor.authorSouzeau, Emmanuelleen_US
dc.contributor.authorLanders, Johnen_US
dc.contributor.authorFitzgerald, Jude Ten_US
dc.contributor.authorKlebe, Sonjaen_US
dc.contributor.authorRuddle, Jonathan Ben_US
dc.contributor.authorGoldberg, Ivanen_US
dc.contributor.authorHealey, Paul Ren_US
dc.contributor.authorMills, Richard A.en_US
dc.contributor.authorWang, Jie Jinen_US
dc.contributor.authorMontgomery, Grant W.en_US
dc.contributor.authorMartin, Nicholas G.en_US
dc.contributor.authorRadfordSmith, Grahamen_US
dc.contributor.authorWhiteman, David C.en_US
dc.contributor.authorBrown, Matthew A.en_US
dc.contributor.authorWiggs, Janey L.en_US
dc.contributor.authorMackey, David Aen_US
dc.contributor.authorMitchell, Paulen_US
dc.contributor.authorMacGregor, Stuarten_US
dc.contributor.authorCraig, Jamie E.en_US
dc.date.accessioned2015-05-04T15:27:15Z
dc.date.issued2014en_US
dc.identifier.citationGharahkhani, P., K. P. Burdon, R. Fogarty, S. Sharma, A. W. Hewitt, S. Martin, M. H. Law, et al. 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. http://dx.doi.org/10.1038/ng.3079.en
dc.identifier.issn1061-4036en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:15034901
dc.description.abstractPrimary 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.en
dc.language.isoen_USen
dc.relation.isversionofdoi:10.1038/ng.3079en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177327/pdf/en
dash.licenseLAAen_US
dc.titleCommon variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucomaen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNature geneticsen
dash.depositing.authorPasquale, Louis R.en_US
dc.date.available2015-05-04T15:27:15Z
dc.identifier.doi10.1038/ng.3079*
dash.authorsorderedfalse
dash.contributor.affiliatedWiggs, Janey
dash.contributor.affiliatedPasquale, Louis


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