Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/70903
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Type: Journal article
Title: Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Author: Burdon, K.
MacGregor, S.
Hewitt, A.
Sharma, S.
Chidlow, G.
Mills, R.
Danoy, P.
Casson, R.
Viswanathan, A.
Liu, J.
Landers, J.
Henders, A.
Wood, J.
Souzeau, E.
Crawford, A.
Leo, P.
Wang, J.
Rochtchina, E.
Nyholt, D.
Martin, N.
et al.
Citation: Nature Genetics, 2011; 43(6):574-578
Publisher: Nature Publishing Group
Issue Date: 2011
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Glyn Chidlow... Robert Casson... John Wood... et al.
Abstract: 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.
Keywords: Retina; 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 Study
Rights: © 2011 Nature America, Inc.
RMID: 0020109153
DOI: 10.1038/ng.824
Grant ID: http://purl.org/au-research/grants/nhmrc/241944
http://purl.org/au-research/grants/nhmrc/339462
http://purl.org/au-research/grants/nhmrc/389927
http://purl.org/au-research/grants/nhmrc/389875
http://purl.org/au-research/grants/nhmrc/389891
http://purl.org/au-research/grants/nhmrc/389892
http://purl.org/au-research/grants/nhmrc/389938
http://purl.org/au-research/grants/nhmrc/443036
http://purl.org/au-research/grants/nhmrc/442915
http://purl.org/au-research/grants/nhmrc/442981
http://purl.org/au-research/grants/nhmrc/496610
http://purl.org/au-research/grants/nhmrc/496739
http://purl.org/au-research/grants/nhmrc/552485
http://purl.org/au-research/grants/nhmrc/552498
http://purl.org/au-research/grants/nhmrc/496674
http://purl.org/au-research/grants/nhmrc/613705
http://purl.org/au-research/grants/nhmrc/595944
http://purl.org/au-research/grants/nhmrc/613674
http://purl.org/au-research/grants/arc/FT0991022
Appears in Collections:Opthalmology & Visual Sciences publications

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