Evaluation of myopia-associated genes in a Han Chinese population with high myopia

High myopia is a leading cause of blindness worldwide. However, the exact etiology and mechanism of high myopia remain unclear. Previous genome-wide association study has demonstrated that nine single nucleotide polymorphisms (SNPs) in East and Southeast Asian populations were associated with high myopia and proved that the nervous system was involved in the pathogenesis of high myopia. The present study was conducted to investigate whether these genetic variants retinal nervous system-related were associated with high myopia among Han Chinese.

Seven SNPs were genotyped by the MassARRAY iPLEX Gold method in a Han Chinese cohort with the majority from Henan region (central China), which included 361 patients with high myopia and 749 healthy controls.

In terms of genotyped SNPs, the allele frequency of rs698047 locus of the HIVEP3 gene were statistically different between myopia and control groups initially, but the difference disappeared after Bonferroni method correction. When the genetic model analysis was performed, the rs698047 locus additive model 2 of the HIVEP3 gene was found to be different between the case and control groups in the Han Chinese population (Pc = 0. 049, OR = 1.64, 95% CI 1.14-2.36).

There was no demonstrated association between the occurrence of high myopia in the Chinese Han population and polymorphisms in the following loci: HIVEP3 (rs698047), NFASC/CNTN2 (rs2246661), ZC3H11B (rs12032649), CNTN4/CNTN6 (rs17029206), FRMD4B (rs74633073), AKAP13 (rs72748160), and GJD2 (rs589135).