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dc.contributor.authorGharahkhani, Puya
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorFogarty, Rhys Daniel
dc.contributor.authorSharma, Shiwani
dc.contributor.authorHewitt, Alex W
dc.contributor.authorMartin, Sarah
dc.contributor.authorLaw, Matthew H
dc.contributor.authorCremin, Katie
dc.contributor.authorCooke-Bailey, Jessica N
dc.contributor.authorLoomis, Stephanie J
dc.contributor.authorPasquale, Louis R
dc.contributor.authorHaines, Jonathan L
dc.contributor.authorHauser, Michael A
dc.contributor.authorViswanathan, Ananth C
dc.contributor.authorMcGuffin, Peter W
dc.contributor.authorTopouzis, Fotis
dc.contributor.authorFoster, Paul J
dc.contributor.authorGraham, Stuart L
dc.contributor.authorCasson, Robert J
dc.contributor.authorChehade, Mark
dc.contributor.authorWhite, Andrew J
dc.contributor.authorZhou, Tiger
dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorLanders, John
dc.contributor.authorFitzgerald, Jude T
dc.contributor.authorKlebe, Sonja
dc.contributor.authorRuddle, Jonathan B
dc.contributor.authorGoldberg, Ivan
dc.contributor.authorHealey, Paul R
dc.contributor.authorWellcome Trust Case Control Consortium
dc.contributor.authorNeighborhood Consortium
dc.contributor.authorMills, Richard Arthur
dc.contributor.authorWang, Jie Jin
dc.contributor.authorMontgomery, Grant W
dc.contributor.authorMartin, Nicholas G
dc.contributor.authorRadford-Smith, Graham
dc.contributor.authorWhiteman, David C
dc.contributor.authorBrown, Matthew A
dc.contributor.authorWiggs, Janey L
dc.contributor.authorMackey, David A
dc.contributor.authorMitchell, Paul
dc.contributor.authorMacGregor, Stuart
dc.contributor.authorCraig, Jamie E
dc.identifier.citationGharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Cooke Bailey JN, Loomis SJ, Pasquale LR, Haines JL, Hauser MA, Viswanathan AC, McGuffin P, Topouzis F, Foster PJ, Graham SL, Casson RJ, Chehade M, White AJ, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Klebe S, Ruddle JB, Goldberg I, Healey PR, Wellcome Trust Case Control Consortium, NEIGHBORHOOD Consortium, Mills RA, Wang JJ, Montgomery GW, Martin NG, Radford-Smith G, Whiteman DC, Brown MA, Wiggs JL, Mackey DA, Mitchell P, Macgregor S, Craig JE. (2014) Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nature Genetics. 46(10): 1120-5en
dc.descriptionAuthor version available from PubMed Central (PMC).
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 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.en
dc.publisherNature Publishing Groupen
dc.rightsCopyright 2014 Nature America, Inc. All rights reserved.en
dc.subjectGenome studiesen
dc.titleCommon variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucomaen
dc.rights.holderNature America, Incen

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