A Genetic Variant in the SKIV2L Gene Is Significantly Associated With Age-Related Macular Degeneration in a Han Chinese Population

Abstract PURPOSE: Previous studies have shown genetic variants in the complement component 2 (C2)/complement factor B (BF) gene are associated with age-related macular degeneration (AMD) in Caucasians, but not in Han Chinese. Recent studies have indicated that genetic variants in the neighboring superkiller viralicidic activity 2-like (SKIV2L) gene showed significant association with AMD. We conducted this study to investigate whether genetic variants in the SKIV2L gene are associated with AMD in a Han Chinese population. METHODS: Thirteen single nucleotide polymorphisms (SNPs) in the C2-BF-RDBP-SKIV2L-STK19 region were genotyped by the SNaPshot method in a cohort composed of 449 patients with choriodal neovascularization (CNV) AMD and 1,025 normal controls of Han Chinese descent. RESULTS: Among the SNPs genotyped, P-values of seven SNPs were less than 0.05; however, only rs429608 was found to be significantly associated with AMD after correction for multiple testing. The minor allele (A) frequency of rs429608 was 0.050 in cases and 0.089 in controls, and the P-value was 3.76x10-4 (0.00489 after Bonfferoni correction), with an odds ratio (OR) of 0.55 (95% confidence interval, 0.40-0.77). The SKIV2L gene was expressed in the human retinal pigment epithelium (RPE), retina and D407 (human RPE) cells, and in mouse retinas and RPE. CONCLUSIONS: We demonstrated that the rs429608 genetic variant in the SKIV2L gene was significantly associated with AMD in a Han Chinese population. SKIV2L may play an important role in the development of AMD.