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

Abbas M Solouki, 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 SpectorTheo 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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

160 Citations (Web of Science)


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 languageEnglish
Pages (from-to)897-901
Number of pages5
JournalNature Genetics
Issue number10
Publication statusPublished - Oct 2010
Externally publishedYes


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

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