Associations between gene variants and high myopia in a Japanese population.

PURPOSE

The crystallin beta A4 () gene variant, rs2009066, was previously reported to be associated with high myopia in a southern Chinese population. In the present study, we investigated whether variants were associated with high myopia in a Japanese population.

METHODS

We recruited 1,063 Japanese patients with high myopia (spherical equivalent [SE] ≤-9.00 D in both eyes) and 1,009 healthy Japanese subjects (SE >-1.00 D). We genotyped rs2009066 and three tagging single-nucleotide polymorphisms (SNPs), rs16982456, rs2071861, and rs4276, in the region.

RESULTS

We did not find any significant association between these four SNPs and high myopia in an allele analysis. However, rs2009066 and rs2071861, which were in strong linkage disequilibrium (LD; =0.86), showed a marginal association with high myopia in the recessive genotype model of risk alleles (rs2009066 G allele: =0.032, odds ratio [OR] =1.31; rs2071861 A allele: =0.037, OR =1.31). Nevertheless, this association became insignificant after correcting for multiple testing (c >0.05).

CONCLUSION

This study showed no significant association between variants and high myopia in a Japanese population. Our findings did not correspond with a previous study. Further genetic studies with other populations are needed to elucidate a potential contribution of the region in the development of high myopia.