Document Detail

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
MedLine Citation:
PMID:  20835239     Owner:  NLM     Status:  MEDLINE    
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.
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 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
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2010-09-12
Journal Detail:
Title:  Nature genetics     Volume:  42     ISSN:  1546-1718     ISO Abbreviation:  Nat. Genet.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-29     Completed Date:  2010-10-28     Revised Date:  2014-09-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  897-901     Citation Subset:  IM    
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MeSH Terms
Actins / genetics
Case-Control Studies
Chromosomes, Human, Pair 15 / genetics*
Connexins / genetics
Genetic Predisposition to Disease*
Genetic Variation / genetics
Genome, Human*
Genome-Wide Association Study*
Middle Aged
Myopia / genetics*
Young Adult
Grant Support
R01 EY014685/EY/NEI NIH HHS; R01 EY018246/EY/NEI NIH HHS; R01EY018246/EY/NEI NIH HHS; //Wellcome Trust
Reg. No./Substance:
0/ACTC1 protein, human; 0/Actins; 0/Connexins; 0/connexin 36

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