Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population

High myopia (HM) is a common cause of visual impairment worldwide. Previous genome-wide association studies have reported that seven single nucleotide polymorphisms (SNPs), including rs1254319, rs3138144, rs12205363, rs17648524, rs7829127, rs1656404, and rs7084402, are associated with HM in Caucasians. The aim of this study was to investigate the association of these SNPs in Han Chinese.

SNPs were genotyped by SNaPshot method in a Chinese cohort composed of 830 HM patients and 1140 controls.

Rs17648524 (C/G) and rs7084402 (A/G) were significantly associated with HM (p = 3.0 × 10^-3, OR = 0.43; p = 3.7 × 10^-2, OR = 1.25, respectively). The association of rs17648524 was also observed under the heterozygous model (CG vs. GG, p = 7.0 × 10^-3, OR = 0.43) and the dominant model (CC + CG vs. GG, p = 4.0 × 10^-3, OR = 0.42). The association of rs7084402 was found under the homozygous model (GG vs. AA, p = 4.0 × 10^-2, OR = 1.56) and the dominant model (GG+ AG vs. AA, p = 3.8 × 10^-2, OR = 1.41). Another SNP, rs7829127 (A/G), was found to be significantly associated with HM under the heterozygous model (AG vs. AA, p = 4.6 × 10^-2, OR = 0.67). Furthermore, the associations of rs17648524 and rs7084402 with HM were gender-specific, with significance observed only in females but not in males. As for the other four SNPs, no associations were detected under these genetic models.

Our findings suggested rs17648524 (intronic RBFOX1 gene) and rs7084402 (7.5kb 5' of the BICC1 gene) showed gender-specific associations with high myopia in the Han Chinese.