A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.
A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.
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DOI：
10.1167/iovs.12-11381
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发表时间：
2013-04
影响因子：
4.4
通讯作者：
Fang Lu;Yi Shi;C. Qu;Peiquan Zhao;Xiaoqi Liu;B. Gong;Shi Ma;Yu Zhou-;Qi Zhang;P. Fei;Yu Xu;Jianbin Hu;Yingchuan Fan;Ying Lin;Xianjun Zhu;Zhenglin Yang
中科院分区：
文献类型：
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作者：
Fang Lu;Yi Shi;C. Qu;Peiquan Zhao;Xiaoqi Liu;B. Gong;Shi Ma;Yu Zhou-;Qi Zhang;P. Fei;Yu Xu;Jianbin Hu;Yingchuan Fan;Ying Lin;Xianjun Zhu;Zhenglin Yang
研究目的：已有研究表明，补体成分2（C2）/补体因子B（BF）基因的遗传变异与白种人AMD的发生有关，而与汉族人AMD的发生无关。最近的研究表明，邻近的超级杀伤病毒活性2-样（SKIV 2L）基因的遗传变异与AMD显着相关。我们进行这项研究是为了调查SKIV 2L基因的遗传变异是否与中国汉族人群中的AMD相关。方法采用SNaPshot方法对449例脉络膜新生血管（CNV）AMD患者和1025例健康对照者的C2-BF-RDBP-SKIV 2L-STK 19区域13个单核苷酸多态性（SNPs）进行基因分型。结果在基因分型的SNPs中，有7个SNPs的P值小于0.05，但经多重检验校正后，只有rs 429608与AMD有显著相关性。rs 429608的次要等位基因（A）在病例组和对照组中的频率分别为0.050和0.089，P值为3.76 × 10（-4）（经Bonferroni校正后为0.00489），比值比为0.55（95%可信区间为0.40-0.77）。SKIV 2L基因在人RPE、视网膜和D407（人RPE）细胞中以及在小鼠视网膜和RPE中表达。结论我们证实SKIV 2L基因中的rs 429608遗传变异与中国汉族人群中的AMD显著相关。SKIV 2L可能在AMD的发生发展中起重要作用。
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-SKIV2L-STK19 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.