A functional polymorphism in the promoter of αA-crystallin increases the risk of nAMD

To analyze the association between the promoter of αA-crystallin (CRYAA) variants with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a northern Chinese population.

We performed a case-control study in a group of Chinese patients with nAMD (n = 345) or PCV (n = 371) and contrasted the results against an independent control group comprising 514 mild cataract patients without any evidence of age-related maculopathy. An association analysis of allele frequencies was performed for 6 single-nucleotide polymorphisms (SNPs) at the CRYAA locus (rs3761381, rs3761382, rs79545821, rs13053109, rs7278468, and rs117396767). Differences in the observed genotypic distributions between the cases and controls were tested using chi-square tests, and logistic regression models were used to calculate the odds ratio (OR) and 95% confidence interval (CI) of nAMD or PCV.

The CRYAA rs7278468 variant was significantly associated with neovascular age-related macular degeneration (OR = 1.253, 95% CI 1.018-1.542, P = 0.033). No association was detected between the other five SNPs and nAMD (P > 0.05). No association was detected between these six SNPs and PCV (P > 0.05).

Our data suggest CRYAA rs7278468 increases the risk of nAMD. The data might provide crucial information for future clinical studies on the mechanisms of nAMD and may require larger studies to accurately dissect.