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Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1


Burdon, KP and Macgregor, S and Hewitt, AW and Sharma, S and Chidlow, G and Mills, RA and Danoy, P and Casson, R and Viswanathan, AC and Liu, JZ and Landers, J and Henders, AK and Wood, J and Souzeau, E and Crawford, A and Leo, P and Wang, JJ and Rochtchina, E and Nyholt, DR and Martin, NG and Montgomery, GW and Mitchell, P and Brown, MA and Mackey, DA and Craig, JE, Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1, Nature Genetics, 43, (6) pp. 574-578. ISSN 1061-4036 (2011) [Refereed Article]

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Copyright Statement

2011 Nature Publishing Group

DOI: doi:10.1038/ng.824


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=6.1x10−10) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P=4.7x10−9). 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=6.00x10−14, OR = 1.51, 95% CI 1.351.68; rs4977756 combined P=1.35x10−14, OR = 1.39, 95% CI 1.281.51). 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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:75762
Year Published:2011
Web of Science® Times Cited:317
Deposited By:Medicine
Deposited On:2012-02-15
Last Modified:2017-11-06
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