Abstract
GJA8 plays an important role in lens growth and transparency. Therefore, we hypothesized that two single nucleotide polymorphisms (SNPs) in GJA8 might be associated with age-related cataract. We investigated the SNPs rs1495960 and rs9437983 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing, in 96 age-related cataract patients, and 208 gender- and age-matched healthy controls. No significant differences between cases and controls were seen in genotype or allele distributions of rs1495960 (P > 0.05). The allele distribution of rs9437983 was different between cases and controls, but no difference was detected in its genotype distribution. Cataract patients had a significantly lower G-G haplotype frequency (4.9% vs. 15.5%, P = 0.0001), and a significantly higher G-A haplotype frequency (45.6% vs. 36.4%, P = 0.030) than controls. Limiting to nuclear cataract cases significantly increased the differences between cases and controls for G-G and G-A haplotypes. These results support that the GJA8 gene may be a novel susceptibility gene for age-related cataracts.
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