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Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

ABSTRACT: Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4 independent population-based studies in The Netherlands. We replicated our findings in 7,482 participants from 4 additional cohorts from the UK, Australia, Canada, and the Wellcome Trust Case-Control Consortium 2/Blue Mountains Eye Study. IOP was significantly associated with rs11656696, located in GAS7 at 17p13.1 (p=1.4×10(-8)), and with rs7555523, located in TMCO1 at 1q24.1 (p=1.6×10(-8)). In a meta-analysis of 4 case-control studies (total N?=?1,432 glaucoma cases), both variants also showed evidence for association with glaucoma (p=2.4×10(-2) for rs11656696 and p=9.1×10(-4) for rs7555523). GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina. Both genes functionally interact with known glaucoma disease genes. These data suggest that we have identified two clinically relevant genes involved in IOP regulation.

SUBMITTER: van Koolwijk LM

PROVIDER: S-EPMC3342933 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

van Koolwijk Leonieke M E LM Ramdas Wishal D WD Ikram M Kamran MK Jansonius Nomdo M NM Pasutto Francesca F Hysi Pirro G PG Macgregor Stuart S Janssen Sarah F SF Hewitt Alex W AW Viswanathan Ananth C AC ten Brink Jacoline B JB Hosseini S Mohsen SM Amin Najaf N Despriet Dominiek D G DD Willemse-Assink Jacqueline J M JJ Kramer Rogier R Rivadeneira Fernando F Struchalin Maksim M Aulchenko Yurii S YS Weisschuh Nicole N Zenkel Matthias M Mardin Christian Y CY Gramer Eugen E Welge-Lüssen Ulrich U Montgomery Grant W GW Carbonaro Francis F Young Terri L TL Bellenguez Céline C McGuffin Peter P Foster Paul J PJ Topouzis Fotis F Mitchell Paul P Wang Jie Jin JJ Wong Tien Y TY Czudowska Monika A MA Hofman Albert A Uitterlinden Andre G AG Wolfs Roger C W RC de Jong Paulus T V M PT Oostra Ben A BA Paterson Andrew D AD Mackey David A DA Bergen Arthur A B AA Reis André A Hammond Christopher J CJ Vingerling Johannes R JR Lemij Hans G HG Klaver Caroline C W CC van Duijn Cornelia M CM

PLoS genetics 20120503 5

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4 independent population-based studies in The Netherlands. We replicated our findings in 7,482 participants from 4 additional cohorts from the UK, Australia, Canada, and the Wellcome Trust Case-Control Consortium ...[more]

PMID: 22570627

Dataset Information

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

Publications

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

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