Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population.

BACKGROUND: To investigate whether genetic variant in superkiller viralicidic activity 2-like (SKIV2L) gene is associated with exudative age-related macular degeneration (AMD) including neovascular AMD, polypoidal choroidal vasculopathy (PCV), and retinal angiomatous proliferation (RAP).

MATERIALS AND METHODS: A total of 517 patients with exudative AMD comprised of 157patients with neovascular AMD, 333 patients with PCV, and 27patients with RAP, and 205 controls were enrolled in this study. Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susceptibility2 (ARMS2) gene was genotyped using TaqMan technology. Logistic regression analysis was performed to correlate the risk for exudative AMD with demographic and genetic factors.

RESULTS: The A allele frequency of rs429608 in the SKIV2L gene was significantly higher in controls (13.9%) than in those with neovascular AMD (5.7%, p = 0.002), PCV (7.2%, p = 0.003) and RAP (3.7%, p = 0.0345). After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).

CONCLUSIONS: A SKIV2L variant was associated with protection against exudative AMD regardless of subtypes in the Japanese population.