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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 × 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.

Original publication

DOI

10.1038/ng.663

Type

Journal article

Journal

Nature genetics

Publication Date

10/2010

Volume

42

Pages

897 - 901

Addresses

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

Keywords

Chromosomes, Human, Pair 15, Humans, Myopia, Genetic Predisposition to Disease, Actins, Connexins, Case-Control Studies, Genotype, Genome, Human, Adolescent, Adult, Aged, Middle Aged, Female, Male, Genetic Variation, Genome-Wide Association Study, Young Adult