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

Burdon, KP; Macgregor, S; Hewitt, AW; Sharma, S; Chidlow, G; Mills, RA; Danoy, P; Casson, R; Viswanathan, AC; Liu, JZ; Landers, J; Henders, AK; Wood, J; Souzeau, E; Crawford, A; Leo, P; Wang, JJ; Rochtchina, E; Nyholt, DR; Martin, NG; Montgomery, GW; Mitchell, P; Brown, MA; Mackey, DA; Craig, JE

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

Citation

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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DOI: doi:10.1038/ng.824

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 x 10⁻¹⁰) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 x 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 x 10⁻¹⁴, OR = 1.51, 95% CI 1.35–1.68; rs4977756 combined P = 1.35 x 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.

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
Downloads:	3 View Download Statistics

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