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Abstract #46044 Published in IGR 13-2
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Burdon KP; Macgregor S; Hewitt AW; Sharma S; Chidlow G; Mills RA; Danoy P; Casson R; Viswanathan AC; Liu JZNature Genetics 2011; 43: 574-578
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 null 10(-10)) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 null 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 null 10(-14), OR = 1.51, 95% CI 1.35-1.68; rs4977756 combined P = 1.35 null 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. (copyright) 2011 Nature America, Inc. All rights reserved.
J. E. Craig. Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia. Email: jamie.craig@flinders.edu.au
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
