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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2011-5-26
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pubmed:abstractText |
We 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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:BrownMatthew AMA,
pubmed-author:BurdonKathryn PKP,
pubmed-author:CassonRobertR,
pubmed-author:ChidlowGlynG,
pubmed-author:CraigJamie EJE,
pubmed-author:CrawfordAprilA,
pubmed-author:DanoyPatrickP,
pubmed-author:HendersAnjali KAK,
pubmed-author:HewittAlex WAW,
pubmed-author:LandersJohnJ,
pubmed-author:LeoPaulP,
pubmed-author:LiuJimmy ZJZ,
pubmed-author:MacgregorStuartS,
pubmed-author:MackeyDavid ADA,
pubmed-author:MartinNicholas GNG,
pubmed-author:MillsRichard ARA,
pubmed-author:MitchellPaulP,
pubmed-author:MontgomeryGrant WGW,
pubmed-author:NyholtDale RDR,
pubmed-author:RochtchinaElenaE,
pubmed-author:SharmaShiwaniS,
pubmed-author:SouzeauEmmanuelleE,
pubmed-author:ViswanathanAnanth CAC,
pubmed-author:WangJie JinJJ,
pubmed-author:WoodJohnJ
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
574-8
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pubmed:meshHeading |
pubmed-meshheading:21532571-Aged,
pubmed-meshheading:21532571-Aged, 80 and over,
pubmed-meshheading:21532571-Animals,
pubmed-meshheading:21532571-Cyclin-Dependent Kinase Inhibitor p15,
pubmed-meshheading:21532571-Cytoskeletal Proteins,
pubmed-meshheading:21532571-Eye Proteins,
pubmed-meshheading:21532571-Female,
pubmed-meshheading:21532571-Genetic Predisposition to Disease,
pubmed-meshheading:21532571-Genome-Wide Association Study,
pubmed-meshheading:21532571-Glaucoma, Open-Angle,
pubmed-meshheading:21532571-Glycoproteins,
pubmed-meshheading:21532571-Humans,
pubmed-meshheading:21532571-Male,
pubmed-meshheading:21532571-Polymorphism, Single Nucleotide,
pubmed-meshheading:21532571-Rats,
pubmed-meshheading:21532571-Retina
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pubmed:year |
2011
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pubmed:articleTitle |
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
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pubmed:affiliation |
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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