Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population

PURPOSE The gene for Eph-receptor tyrosinekinase-type A2 (EPHA2) has been shown to be involved in the pathogenesis of age-related cataract (ARC). The aim of this study was to examine whether EPHA2 polymorphisms were associated with the susceptibility to age-related cortical cataract in a Han Chinese population. METHODS Five single-nucleotide polymorphisms (SNPs)-rs3768293, rs3754334, rs7548209, rs707455, and rs477558-in the EPHA2 gene were genotyped in 422 Han Chinese patients with age-related cortical cataract and 317 age-, sex-, and ethnically matched healthy controls using a PCR restriction fragment length polymorphism (PCR-RFLP) assay. Data were analyzed by χ(2) analysis. RESULTS The results showed that the five analyzed polymorphisms in EPHA2 were in Hardy-Weinberg equilibrium both in the patients and in the controls. The frequency of the rs477558 AA genotype was significantly increased in ARC patients compared with controls (χ(2)=8.649, pc=0.045, odds ratio [OR] 1.555, 95% CI 1.158 to 2.089). The frequency of the rs477558 AG genotype was significantly decreased in ARC patients compared with controls (χ(2)=9.281, pc=0.030, OR 0.626, 95% CI 0.463 to 0.847). Significantly higher frequencies of the GG genotype and the G allele of rs7548209 were observed in ARC patients compared with controls (χ(2)=10.430, pc=0.015, OR 1.660, 95% CI 1.219 to 2.261 and χ(2)=8.537, pc=0.015, OR 1.486, 95% CI 1.138 to 1.940, respectively). On the other hand, significantly decreased frequencies of the rs7548209 CG genotype and the C allele were observed in ARC patients compared with controls (χ(2)=9.999, pc=0.030, OR 0.603, 95% CI 0.440 to 0.826 and χ(2)=8.537, pc=0.015, OR 0.673, 95% CI 0.515 to 0.879, respectively). There was no difference in the frequencies of the genotype and allele of the rs3768293, rs3754334, and rs707455 SNPs between the patients with ARC and the controls. CONCLUSIONS Our study suggests that both SNP rs477558 and SNP rs7548209 of EPHA2 are associated with age-related cortical cataract in a Han Chinese population.