Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/70903
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dc.contributor.authorBurdon, K.en
dc.contributor.authorMacGregor, S.en
dc.contributor.authorHewitt, A.en
dc.contributor.authorSharma, S.en
dc.contributor.authorChidlow, G.en
dc.contributor.authorMills, R.en
dc.contributor.authorDanoy, P.en
dc.contributor.authorCasson, R.en
dc.contributor.authorViswanathan, A.en
dc.contributor.authorLiu, J.en
dc.contributor.authorLanders, J.en
dc.contributor.authorHenders, A.en
dc.contributor.authorWood, J.en
dc.contributor.authorSouzeau, E.en
dc.contributor.authorCrawford, A.en
dc.contributor.authorLeo, P.en
dc.contributor.authorWang, J.en
dc.contributor.authorRochtchina, E.en
dc.contributor.authorNyholt, D.en
dc.contributor.authorMartin, N.en
dc.contributor.authoret al.en
dc.date.issued2011en
dc.identifier.citationNature Genetics, 2011; 43(6):574-578en
dc.identifier.issn1061-4036en
dc.identifier.issn1546-1718en
dc.identifier.urihttp://hdl.handle.net/2440/70903-
dc.description.abstractWe report a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls. We identified associated loci at TMCO1 (rs4656461[G] odds ratio (OR) = 1.68, P = 6.1 × 10(-10)) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 × 10(-9)). We replicated these associations in an independent cohort of cases with advanced OAG (rs4656461 P = 0.010; rs4977756 P = 0.042) and two additional cohorts of less severe OAG (rs4656461 combined discovery and replication P = 6.00 × 10(-14), OR = 1.51, 95% CI 1.35-1.68; rs4977756 combined P = 1.35 × 10(-14), OR = 1.39, 95% CI 1.28-1.51). We show retinal expression of genes at both loci in human ocular tissues. We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma.en
dc.description.statementofresponsibilityGlyn Chidlow... Robert Casson... John Wood... et al.en
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.rights© 2011 Nature America, Inc.en
dc.subjectRetina; Animals; Humans; Rats; Glaucoma, Open-Angle; Genetic Predisposition to Disease; Glycoproteins; Cytoskeletal Proteins; Eye Proteins; Polymorphism, Single Nucleotide; Aged; Aged, 80 and over; Female; Male; Cyclin-Dependent Kinase Inhibitor p15; Genome-Wide Association Studyen
dc.titleGenome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1en
dc.typeJournal articleen
dc.identifier.rmid0020109153en
dc.identifier.doi10.1038/ng.824en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/241944en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/339462en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/389927en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/389875en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/389891en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/389892en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/389938en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/443036en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/442915en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/442981en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/496610en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/496739en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/552485en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/552498en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/496674en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/613705en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/595944en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/613674en
dc.relation.granthttp://purl.org/au-research/grants/arc/FT0991022en
dc.identifier.pubid29519-
pubs.library.collectionOpthalmology & Visual Sciences publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Opthalmology & Visual Sciences publications

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