SKIV2L基因中的一种遗传变异与中国汉族人群的年龄相关性黄斑变性显著相关

The Sichuan Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China

PURPOSE. Previous studies have shown that genetic variants in the complement component 2 (C2)/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 (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-SKIV2LSTK19 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. 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 3.76 × 10-4 (0.00489 after Bonferroni correction), with an odds ratio of 0.55 (95% confidence interval, 0.40-0.77). The SKIV2L gene was expressed in the human 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. © 2013 The Association for Research in Vision and Ophthalmology, Inc.

Yang, Z.; Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, 32 The First Ring Road West 2, Chengdu, Sichuan 610072, China; email:zliny@yahoo.com