A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Solouki, AM; Verhoeven, VJM; van Duijn, CM; Verkerk, AJMH; Ikram, MK; Hysi, PG; Despriet, DDG; van Koolwijk, LM; Ho, L; Ramdas, WD; Czudowska, M; Kuijpers, RWAM; Amin, N; Struchalin, M; Aulchenko, YS; van Rij, G; Riemslag, FCC; Young, TL; Mackey, DA; Spector, TD; Gorgels, TGMF; Willemse-Assink, JJM; Isaacs, A; Kramer, R; Swagemakers, SMA; Bergen, AAB; van Oosterhout, AALJ; Oostra, BA; Rivadeneira, F; Uitterlinden, AG; Hofman, A; de Jong, PTVM; Hammond, CJ; Vingerling, JR; Klaver, CCW

Published Date

  • October 2010

Published In

Volume / Issue

  • 42 / 10

Start / End Page

  • 897 - 901

PubMed ID

  • 20835239

Pubmed Central ID

  • PMC4115149

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.663


  • eng

Conference Location

  • United States