期刊
NATURE GENETICS
卷 42, 期 10, 页码 897-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.663
关键词
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资金
- Netherlands Organisation of Scientific Research (NWO)
- Erasmus University, Rotterdam, The Netherlands
- Netherlands Organization for Health Research and Development (ZonMw)
- UitZicht
- Ministry of Education, Culture and Science
- Ministry for Health, Welfare and Sports
- European Commission
- Municipality of Rotterdam
- Center for Medical Systems Biology of NGI
- Lijf en Leven
- M. D. Fonds
- H. Stichting
- Oogfonds Nederland
- Stichting Nederlands Oogheelkundig Onderzoek
- Swart van Essen
- Bevordering van Volkskracht
- Blindenhulp
- Landelijke Stichting voor Blinden en Slechtzienden
- Rotterdamse Vereniging voor Blindenbelangen
- OOG
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid
- Rotterdam Eye Hospital Research Foundation
- Lameris Ootech
- Topcon Europe
- Heidelberg Engineering
- Wellcome Trust
- European Union MyEuropia Marie Curie Research Training Network
- Guide Dogs for the Blind Association
- European Community [HEALTH-F2-2008-201865-GEFOS, HEALTH-F4-2007-201413, QLG2-CT-2002-01254]
- Biotechnology and Biological Sciences Research Council [G20234]
- Department of Health via US National Institutes of Health [RO1EY018246]
- Center for Inherited Disease Research
- Erasmus Medical Center
- Research Institute for Diseases in the Elderly
- Netherlands Genomics Initiative (NGI)/NWO
Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We conducted a genome-wide association study for refractive error in 5,328 individuals from a Dutch population-based study with replication in four independent cohorts (combined 10,280 individuals in the replication stage). We identified a significant association at chromosome 15q14 (rs634990, P = 2.21 x 10(-14)). The odds ratio of myopia compared to hyperopia for the minor allele (minor allele frequency = 0.47) was 1.41 (95% CI 1.16-1.70) for individuals heterozygous for the allele and 1.83 (95% CI 1.42-2.36) for individuals homozygous for the allele. The associated locus is near two genes that are expressed in the retina, GJD2 and ACTC1, and appears to harbor regulatory elements which may influence transcription of these genes. Our data suggest that common variants at 15q14 influence susceptibility for refractive errors in the general population.
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