A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.

[oculocutaneous albinism]

Previous studies have shown that genetic variants in the complement component 2 (C 2 )/complement factor B (BF ) gene are associated with AMD in Caucasians , but not in Han Chinese . Recent studies have indicated that genetic variants in the neighboring superkiller viralicidic activity 2 -like (SKIV 2 L ) gene showed significant association with AMD . We conducted this study to investigate whether genetic variants in the SKIV 2 L gene are associated with AMD in a Han Chinese population .T hirteen single nucleotide polymorphisms (SNPs ) in the C 2 -BF-RDBP-SKIV 2 L -STK 19 region were genotyped by the SNaPshot method in a cohort composed of 449 patients with choriodal neovascularization (CNV ) AMD and 1025 healthy controls of Han Chinese descent .Among the SNPs genotyped , P values of seven SNPs were less than 0 .05 ; however , only rs 429608 was found to be significantly associated with AMD after correction for multiple testing . The minor allele (A ) frequency of rs 429608 was 0 .050 in cases and 0 .089 in controls , and the P value was 3 .76 × 10 (-4 ) (0 .00489 after Bonferroni correction ), with an odds ratio of 0 .55 (95 % confidence interval , 0 .40 -0 .77 ). The SKIV 2 L gene was expressed in the human RPE , retina , and D 407 (human RPE ) cells , and in mouse retinas and RPE .We demonstrated that the rs 429608 genetic variant in the SKIV 2 L gene was significantly associated with AMD in a Han Chinese population . SKIV 2 L may play an important role in the development of AMD .