| Literature DB >> 20835239 |
Abbas M Solouki1, Virginie J M Verhoeven, Cornelia M van Duijn, Annemieke J M H Verkerk, M Kamran Ikram, Pirro G Hysi, Dominiek D G Despriet, Leonieke M van Koolwijk, Lintje Ho, Wishal D Ramdas, Monika Czudowska, Robert W A M Kuijpers, Najaf Amin, Maksim Struchalin, Yurii S Aulchenko, Gabriel van Rij, Frans C C Riemslag, Terri L Young, David A Mackey, Timothy D Spector, Theo G M F Gorgels, Jacqueline J M Willemse-Assink, Aaron Isaacs, Rogier Kramer, Sigrid M A Swagemakers, Arthur A B Bergen, Andy A L J van Oosterhout, Ben A Oostra, Fernando Rivadeneira, André G Uitterlinden, Albert Hofman, Paulus T V M de Jong, Christopher J Hammond, Johannes R Vingerling, Caroline C W Klaver.
Abstract
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.Entities:
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Year: 2010 PMID： 20835239 PMCID： PMC4115149 DOI： 10.1038/ng.663
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330