We explored gene abnormalities associated with myopia using the data from the Nagahama Study. In the first stage, a genome-wide association study (GWAS) was conducted on refraction, axial length of the eyes, and corneal curvature radius for 3,248 participants in the Nagahama Study, for whom genome scan data were available. The mutations possibly associated with myopia were examined at the second stage using data from a different set of 3,460 individuals. The mutation that was confirmed to show the reproducibility was subjected to the third stage, in which the reproducibility was further confirmed using data from 2,774 Chinese and 2,690 Caucasian individuals. The results revealed strong correlation of rs200329677 in the WNT7B gene with the axial length and corneal curvature radius. In addition, rs11073058 in the GJD2 gene, which has been reproducibly demonstrated to correlate with myopia, was confirmed to have strong correlations with the axial length and refraction. The correlations of the WNT7B gene mutation with the axial length and corneal curvature radius were confirmed in both Chinese and Caucasian populations and a meta-analysis showed p=3.9×10^-13 and p=2.7×10^-40 for correlations with the axial length and corneal curvature radius, respectively. We also evaluated a statistical interaction between the GJD2 gene mutation and the WNT7B gene mutation and found that the myopia progression due to GJD2 rs11073058 was enhanced by the WNT7B rs10453441 genotype. WNT7B is a very important molecule in elucidating pathogenesis of myopia, and further studies on this molecule are expected.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 121: 847-856, 2017.