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https://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. |
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 http://purl.org/au-research/grants/arc/FT0991022 |
Published version: | http://dx.doi.org/10.1038/ng.824 |
Appears in Collections: | Aurora harvest 5 Opthalmology & Visual Sciences publications |
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