期刊
PLOS GENETICS
卷 8, 期 5, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1002611
关键词
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资金
- Erasmus Medical Center
- Erasmus University Rotterdam
- Netherlands Organization for Health Research and Development (ZonMw) [2200.0035]
- Research Institute for Diseases in the Elderly (RIDE)
- Ministry of Education, Culture, and Science, the Ministry for Health, Welfare, and Sports
- European Commission (DG XII)
- Municipality of Rotterdam
- Netherlands Organisation of Scientific Research NWO Investments [175.010.2005.011, 911-03-012]
- Research Institute for Diseases in the Elderly [014-93-015, RIDE2]
- Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO)/Netherlands Consortium for Healthy Aging (NCHA) [050-060-810]
- Center for Medical Systems Biology (CMSB) of NGI
- Internationale Stichting voor Alzheimer Onderzoek (ISAO) [04516]
- Hersenstichting Nederland (HSN) [150207]
- Alzheimer Association [IRRG0514359]
- Lijf en Leven, Krimpen a/d Lek
- MD Fonds, Utrecht
- Oogfonds Nederland, Utrecht
- Stichting Nederlands Oogheelkundig Onderzoek, Nijmegen/Rotterdam
- Swart van Essen, Rotterdam
- Netherlands Organisation for Scientific Research (NWO)
- Bevordering van Volkskracht, Rotterdam
- Blindenhulp, The Hague
- Blindenpenning, Amsterdam
- Stichting Winckel-Sweep, Utrecht
- Landelijke Stichting voor Blinden en Slechtzienden (LSBS), Utrecht
- Rotterdamse Vereniging voor Blindenbelangen, Rotterdam
- OOG, The Hague
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (ANVVB), Doorn
- Rotterdam Eye Hospital Research Foundation (Stichting Wetenschappelijk Onderzoek Het Oogziekenhuis [SWOO] , Rotterdam)
- Lameris Ootech BV, Nieuwegein
- Topcon Europe BV, Netherlands
- Capelle aan de IJssel, Netherlands
- Heidelberg Engineering, Dossenheim, Germany
- Guide Dogs for the Blind Association
- Wellcome Trust [085475/B/08/Z, 085475/Z/08/Z, 068545/Z/02]
- EU MyEuropia Marie Curie Research Training Network
- European Community [HEALTH-F2-2008-201865-GEFOS]
- ENGAGE [HEALTH-F4-2007-201413]
- FP-5 GenomEUtwin Project [QLG2-CT-2002-01254]
- National Institutes of Health (NIH)/National Eye Institute (NEI) [1RO1EY018246]
- National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre
- Australian National Health and Medical Research Council (NHMRC)
- Clifford Craig Medical Research Trust
- Ophthalmic Research Institute of Australia (ORIA)
- American Health Assistance Foundation (AHAF)
- Peggy and Leslie Cranbourne Foundation
- Foundation for Children
- NHMRC [350415]
- Jack Brockhoff Foundation
- NEI [RO1 EY 018246-01]
- Netherlands Scientific Organization (NWO) [480-05-003]
- Pfizer Australia
- Australian NHMRC [512423]
- NIHR Biomedical Research Centre at Moorfields Eye Hospital NHSFT
- UCL Institute of Ophthalmology
- Medical Research Council [G0000934]
- UK National Blood Service
- MRC [G0000934] Funding Source: UKRI
- Fight for Sight [1895/96] Funding Source: researchfish
- Medical Research Council [G0000934, G9817803B] Funding Source: researchfish
- National Institute for Health Research [SRF/01/010] Funding Source: researchfish
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 x 10(-8)), and with rs7555523, located in TMCO1 at 1q24.1 (p = 1.6 x 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 x 10(-2) for rs11656696 and p = 9.1 x 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.
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