Objectives: To examine whether polymorphisms in the RNA granule component tudor domain-containing protein 7 (TDRD7) gene are associated with susceptibility to age-related cataract (ARC) in a Han Chinese population.
Methods: Patients with ARC, and age-, sex- and ethnically-matched healthy control subjects were enrolled in the study. Five single nucleotide polymorphisms (SNPs) within the TDRD7 gene, rs1462091, rs11793735, rs10981985, rs2045732 and rs1462089, were genotyped using a SNaPshot® Multiplex Kit.
Results: The study included 271 control subjects and 218 patients with ARC. The rs10981985 SNP was associated with ARC in dominant (odds ratio [OR] 0.561, 95% confidence interval [CI] 0.388, 0.809) and allele dose (OR 0.619, 95% CI 0.455, 0.841) genetic models. The rs10981985 A allele frequency was lower in patients with cortical ARC than in control subjects (OR 0.502, 95% CI 0.315, 0.801). The rs10981985 polymorphism was significantly associated with cortical ARC in a dominant genetic model (OR 0.431, 95% CI 0.251, 0.740).
Conclusions: The present study suggests that the rs10981985 G → A variant within the TDRD7 gene may protect against cortical ARC in a Han Chinese population.
Keywords: Age-related cataract; RNA granules; single nucleotide polymorphism; tudor domain-containing protein 7.