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

Kathryn P. Burdon | Zendy; Stuart MacGregor | Zendy; Alex W. Hewitt | Zendy; Shiwani Sharma | Zendy; Glyn Chidlow | Zendy; Richard Mills | Zendy; Patrick Danoy | Zendy; Robert J. Casson | Zendy; Ananth C. Viswanathan | Zendy; Jimmy Z. Liu | Zendy; John Landers | Zendy; Anjali K. Henders | Zendy; John P. M. Wood | Zendy; Emmanuelle Souzeau | Zendy; April Crawford | Zendy; Paul Leo | Zendy; Jie Jin Wang | Zendy; Elena Rochtchina | Zendy; Dale R. Nyholt | Zendy; Nicholas G. Martin | Zendy; Grant W. Montgomery | Zendy; Paul Mitchell | Zendy; Matthew A. Brown | Zendy; David A. Mackey | Zendy; Jamie E. Craig | Zendy

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

Author(s) -

Kathryn P. Burdon,

Stuart MacGregor,

Alex W. Hewitt,

Shiwani Sharma,

Glyn Chidlow,

Richard Mills,

Patrick Danoy,

Robert J. Casson,

Ananth C. Viswanathan,

Jimmy Z. Liu,

John Landers,

Anjali K. Henders,

John P. M. Wood,

Emmanuelle Souzeau,

April Crawford,

Paul Leo,

Jie Jin Wang,

Elena Rochtchina,

Dale R. Nyholt,

Nicholas G. Martin,

Grant W. Montgomery,

Paul Mitchell,

Matthew A. Brown,

David A. Mackey,

Jamie E. Craig

Publication year - 2011

Publication title -

nature genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 18.861

H-Index - 573

eISSN - 1546-1718

pISSN - 1061-4036

DOI - 10.1038/ng.824

Subject(s) - biology , glaucoma , genome wide association study , odds ratio , cohort , genetics , genotyping , cdkn2b , cdkn2a , gene , genotype , medicine , single nucleotide polymorphism , neuroscience

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.

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