Association of 15q14 and 15q25 with High Myopia in Japanese

Abstract

Purpose: : To investigate whether there are associations of genetic variations in chromosome 15q14 and 15q25, recently shown to confer risk of refractive error and myopia in Caucasians, with high myopia in Japanese.

Methods: : We performed a case-control study using 1140 unrelated Japanese patients with high myopia (axial length of >or=26.0 mm in both eyes, or refractive error>or=-6.0 D in phakic cases) and 929 general Japanese individuals as controls. We genotyped the four single nucleotide polymorphisms (SNPs) rs634990 and rs524952 at 15q14 and rs8027411 and rs17175798 at 15q25, using the Taqman method, which were reported recently to be associated with common myopia in Caucasians. We tested differences in their allele frequency between high myopia patients and controls by Chi-square test for trend.

Results: : A highly significant association with high myopia was observed in 15q14 (P=5.24×10-6 for rs634990, and P=5.80×10-6 for rs524952), with odds ratios (95% confidence intervals) of 1.80 (1.41- 2.31) for homozygous for risk allele rs634990 and 1.82 (1.42-2.33) for homozygous for risk allele rs524952. The SNPs in 15q25 also showed a significant association with high myopia (P=0.02 for rs8027411 and P=0.021 for rs17175798), with odds ratios of 1.36 (1.05-1.76) for homozygous for risk allele rs8027411 and 1.30 (1.01-1.69) for homozygous for risk allele rs17175798.

Conclusions: : Our findings suggest that regions in 15q14 and in 15q25 are susceptibility loci for high myopia. These loci harbor susceptibility genes for not only common myopia but also for high myopia.

Keywords: myopia • genetics