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

Publication ,  Journal Article
Solouki, AM; Verhoeven, VJM; van Duijn, CM; Verkerk, AJMH; Ikram, MK; Hysi, PG; Despriet, DDG; van Koolwijk, LM; Ho, L; Ramdas, WD; Amin, N ...
Published in: Nat Genet
October 2010

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.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

October 2010

Volume

42

Issue

10

Start / End Page

897 / 901

Location

United States

Related Subject Headings

  • Young Adult
  • Myopia
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome, Human
  • Genetic Variation
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
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Solouki, A. M., Verhoeven, V. J. M., van Duijn, C. M., Verkerk, A. J. M. H., Ikram, M. K., Hysi, P. G., … Klaver, C. C. W. (2010). A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet, 42(10), 897–901. https://doi.org/10.1038/ng.663
Solouki, Abbas M., Virginie J. M. Verhoeven, Cornelia M. van Duijn, Annemieke J. M. H. Verkerk, M Kamran Ikram, Pirro G. Hysi, Dominiek D. G. Despriet, et al. “A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.Nat Genet 42, no. 10 (October 2010): 897–901. https://doi.org/10.1038/ng.663.
Solouki AM, Verhoeven VJM, van Duijn CM, Verkerk AJMH, Ikram MK, Hysi PG, et al. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet. 2010 Oct;42(10):897–901.
Solouki, Abbas M., et al. “A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.Nat Genet, vol. 42, no. 10, Oct. 2010, pp. 897–901. Pubmed, doi:10.1038/ng.663.
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. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet. 2010 Oct;42(10):897–901.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

October 2010

Volume

42

Issue

10

Start / End Page

897 / 901

Location

United States

Related Subject Headings

  • Young Adult
  • Myopia
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome, Human
  • Genetic Variation
  • Genetic Predisposition to Disease