Chen Zhiqing, Zhai Yi, Zhang Wei, Teng Yan, Yao Ke
From the Eye Center, Second Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, Zhejiang, China (ZC, YZ, YT, KY); Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou, China (ZC, YZ, YT, KY); and Department of Pathology, Zhejiang University School of Medicine, Hangzhou, China (WZ).
Medicine (Baltimore). 2015 Dec;94(49):e2238. doi: 10.1097/MD.0000000000002238.
To investigate whether 3 variants in sirtuin 1 (SIRT1) gene contributed differently in patients with age-related macular degeneration (AMD) in a Chinese Han population.We conducted a case-control study in a group of Chinese patients with AMD (n = 253) and contrasted the results against a control group (n = 292). Three single nucleotide polymorphisms (SNPs) of SIRT1 gene including rs12778366, rs3740051, and rs4746720 were genotyped using improved multiplex ligase detection reaction. The association between targeted SNPs and AMD was then analyzed by codominant, dominant, recessive, and allelic models.The genotyping data of rs12778366, rs3740051, and rs4746720 revealed significant deviations from Hardy-Weinberg equilibrium tests in the AMD group but not in the control group.We detected significantly differences of rs12778366 allele distribution between 2 groups in recessive and codominant model (P < 0.05). Homozygous carriers of the risk allele C displayed a higher chance of developing AMD (P = 0.036, odds ratio = 3.227; 95% confidence interval: 1.015-10.265).Our study, for the first time, raises the possibility that genetic variations of SIRT1 could be implicated in the pathophysiology of AMD in the Chinese Han population.
为了研究在中国汉族人群中，沉默调节蛋白1（SIRT1）基因的3种变异在年龄相关性黄斑变性（AMD）患者中的作用是否存在差异。我们对一组中国AMD患者（n = 253）进行了病例对照研究，并将结果与对照组（n = 292）进行对比。使用改进的多重连接酶检测反应对SIRT1基因的3个单核苷酸多态性（SNP），即rs12778366、rs3740051和rs4746720进行基因分型。然后通过共显性、显性、隐性和等位基因模型分析目标SNP与AMD之间的关联。rs12778366、rs3740051和rs4746720的基因分型数据显示，AMD组的哈迪-温伯格平衡检验存在显著偏差，而对照组则无。我们在隐性和共显性模型中检测到两组之间rs12778366等位基因分布存在显著差异（P < 0.05）。风险等位基因C的纯合携带者发生AMD的可能性更高（P = 0.036，比值比 = 3.227；95%置信区间：1.015 - 10.265）。我们的研究首次提出了SIRT1基因变异可能与中国汉族人群AMD病理生理机制有关的可能性。
