Association of EphA2 gene polymorphisms with susceptibility to age-related cataract among ethnic Han Chinese from Hubei / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To assess the association of Eph-receptor tyrosinekinase-type A2 (EphA2) gene polymorphisms with susceptibility to age-related cataract (ARC) among ethnic Han Chinese from Hubei Province.@*METHODS@#280 patients with cortical ARC and 200 healthy controls were recruited. Polymorphisms at four loci (rs3768293, rs3754334, rs477558 and rs7548209) of the EphA2 gene were detected by PCR-restriction fragment length polymorphism (PCR-RELP) assay. Allelic and genotypic frequencies of the two groups were compared.@*RESULTS@#Compared with the control group, the AA genotype of rs3768293 locus was more common, while the AC genotype was much rarer (P 0.05). The AA genotype of the rs477558 locus was more common in the patient group, while the AG genotype was much rarer (P 0.05).@*CONCLUSION@#Polymorphisms of rs477558, rs7548209 and rs3768293 loci of the EphA2 gene are associated with susceptibility to ARC among ethnic Han Chinese from Hubei province.