TY - JOUR
T1 - A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14
AU - Solouki, Abbas M
AU - Verhoeven, Virginie J M
AU - van Duijn, Cornelia M
AU - Verkerk, Annemieke J M H
AU - Ikram, M Kamran
AU - Hysi, Pirro G
AU - Despriet, Dominiek D G
AU - van Koolwijk, Leonieke M
AU - Ho, Lintje
AU - Ramdas, Wishal D
AU - Czudowska, Monika
AU - Kuijpers, Robert W A M
AU - Amin, Najaf
AU - Struchalin, Maksim
AU - Aulchenko, Yurii S
AU - van Rij, Gabriel
AU - Riemslag, Frans C C
AU - Young, Terri L
AU - Mackey, David A
AU - Spector, Timothy D
AU - Gorgels, Theo G M F
AU - Willemse-Assink, Jacqueline J M
AU - Isaacs, Aaron
AU - Kramer, Rogier
AU - Swagemakers, Sigrid M A
AU - Bergen, Arthur A B
AU - van Oosterhout, Andy A L J
AU - Oostra, Ben A
AU - Rivadeneira, Fernando
AU - Uitterlinden, André G
AU - Hofman, Albert
AU - de Jong, Paulus T V M
AU - Hammond, Christopher J
AU - Vingerling, Johannes R
AU - Klaver, Caroline C W
PY - 2010/10
Y1 - 2010/10
N2 - 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.
AB - 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.
KW - Actins/genetics
KW - Adolescent
KW - Adult
KW - Aged
KW - Case-Control Studies
KW - Chromosomes, Human, Pair 15/genetics
KW - Connexins/genetics
KW - Female
KW - Genetic Predisposition to Disease
KW - Genetic Variation/genetics
KW - Genome, Human
KW - Genome-Wide Association Study
KW - Genotype
KW - Humans
KW - Male
KW - Middle Aged
KW - Myopia/genetics
KW - Young Adult
U2 - 10.1038/ng.663
DO - 10.1038/ng.663
M3 - Article
C2 - 20835239
SN - 1061-4036
VL - 42
SP - 897
EP - 901
JO - Nature Genetics
JF - Nature Genetics
IS - 10
ER -