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Springer, Human Genetics, 9(131), p. 1467-1480, 2012

DOI: 10.1007/s00439-012-1176-0

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Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Journal article published in 2012 by Pirro G. Hysi, Lme Van Koolwijk, Virginie J. M. Verhoeven, Seang-Mei Saw, Veronique Vitart, Alireza Mirshahi, Jeremy A. Guggenheim ORCID, Mary Frances Cotch, Kenji Yamashiro, Paul N. Baird, M. Kamran Ikram, David A. Mackey, Robert Wojciechowski, Mk Kamran Ikram, Cm Van Duijn and other authors.
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Abstract

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10(-12) for SNP rs634990 in Caucasians, and 9.65 × 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P