Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/70903
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dc.contributor.author | Burdon, K. | - |
dc.contributor.author | MacGregor, S. | - |
dc.contributor.author | Hewitt, A. | - |
dc.contributor.author | Sharma, S. | - |
dc.contributor.author | Chidlow, G. | - |
dc.contributor.author | Mills, R. | - |
dc.contributor.author | Danoy, P. | - |
dc.contributor.author | Casson, R. | - |
dc.contributor.author | Viswanathan, A. | - |
dc.contributor.author | Liu, J. | - |
dc.contributor.author | Landers, J. | - |
dc.contributor.author | Henders, A. | - |
dc.contributor.author | Wood, J. | - |
dc.contributor.author | Souzeau, E. | - |
dc.contributor.author | Crawford, A. | - |
dc.contributor.author | Leo, P. | - |
dc.contributor.author | Wang, J. | - |
dc.contributor.author | Rochtchina, E. | - |
dc.contributor.author | Nyholt, D. | - |
dc.contributor.author | Martin, N. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | Nature Genetics, 2011; 43(6):574-578 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.issn | 1546-1718 | - |
dc.identifier.uri | http://hdl.handle.net/2440/70903 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | Glyn Chidlow... Robert Casson... John Wood... et al. | - |
dc.language.iso | en | - |
dc.publisher | Nature Publishing Group | - |
dc.rights | © 2011 Nature America, Inc. | - |
dc.source.uri | http://dx.doi.org/10.1038/ng.824 | - |
dc.subject | Retina | - |
dc.subject | Animals | - |
dc.subject | Humans | - |
dc.subject | Rats | - |
dc.subject | Glaucoma, Open-Angle | - |
dc.subject | Genetic Predisposition to Disease | - |
dc.subject | Glycoproteins | - |
dc.subject | Cytoskeletal Proteins | - |
dc.subject | Eye Proteins | - |
dc.subject | Polymorphism, Single Nucleotide | - |
dc.subject | Aged | - |
dc.subject | Aged, 80 and over | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Cyclin-Dependent Kinase Inhibitor p15 | - |
dc.subject | Genome-Wide Association Study | - |
dc.title | Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/ng.824 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/241944 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/339462 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/389927 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/389875 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/389891 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/389892 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/389938 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/443036 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/442915 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/442981 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/496610 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/496739 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/552485 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/552498 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/496674 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/613705 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/595944 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/613674 | - |
dc.relation.grant | http://purl.org/au-research/grants/arc/FT0991022 | - |
dc.relation.grant | http://purl.org/au-research/grants/arc/FT0991022 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Chidlow, G. [0000-0001-7371-0239] | - |
dc.identifier.orcid | Casson, R. [0000-0003-2822-4076] | - |
Appears in Collections: | Aurora harvest 5 Opthalmology & Visual Sciences publications |
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