年龄相关性白内障患者沉默信息调节因子1(SIRT1)的单核苷酸多态性研究

目的 探讨江苏汉族人群中沉默信息调节因子1(silent information regulator 1,SIRTl)基因的单核苷酸多态性(single nucleotide polymorphism,SNP)与年龄相关性白内障(age-related cataract,ARC)的关系.方法 采用分子流行病学病例对照研究方法和Taq-Man RT-PCR法,检测江苏眼病研究苏南无锡市滨湖区、苏北盐城市阜宁县基地人群720例ARC,701例与患者年龄、性别相匹配且无亲属关系的健康者为正常对照组的SIRT1基因5个位点(rs2236319、rs1885472、rs10997868、rs2273773、rs4746720) SNP的基因型,入选者均为汉族.结果 SIRT1基因rs10997868位点不符合哈迪-温伯格平衡,故排除出结果分析.SIRT1基因SNP位点rs2236319及rs1885472在对照组中基因型(AA/AG/GG、CC/CG/GG)的分布频率分别为40.08％、52.60％、7.32％及35.81％、35.23％、28.96％,在ARC组中的基因型分布频率分别为36.94％、56.25％、6.81％及36.67％、32.92％、30.42％.SNP位点rs2273773及rs4746720在对照组中基因型(CC/CT/TT)的分布频率分别为38.37％、54.78％、5.85％及74.75％、17.69％、7.56％,在ARC组中的基因型分布频率分别为39.58％、54.17％、6.25％及71.81％、20.97％、7.22％.两组间各基因型分布频率差异均无统计学意义(均为P＞0.05).结论 SIRT1基因SNP(rs2236319、rs1885472、rs2273773、rs4746720)与江苏汉族人群中ARC发病不相关.

Association of single nucleotide polymorphism of SIRT1 gene with age-related cataract

Objective To investigate the correlation of single nucleotide poly morphisms (SNP) of silent information regulator 1 (SIRT1) gene with age-related cataract (ARC) in Jiangsu Har population.Methods Population-based case-control study was conducted in 720 cataract cases and 701 healthy controls,who were selected from the database of Funing County of Northern Jiangsu and Binhu District of Wuxi city of Southern Jiangsu.Five SNPs of SIRT1 gene (rs2236319,rs1885472,rs10997868,rs2273773 and rs4746720) were genotyped by Taq-Man RT-PCR methods.Results The genotype of 2 SNPs in SIRT1 (rs2236319 and rs1885472) was AA/AG/GG and CC/CG/GG respectively,and the genotype frequency in the controls was 40.08％,52.60％,7.32％ and 35.81％,35.23％,28.96％ respectively,while the frequency in ARCs was 36.94％,56.25％,6.81％ and 36.67％,32.92％,30.42％,respectively.The genotype of another 2 SNPs in SIRT1 (rs2273773 and rs4746720) was both CC/CT/TT,and the genotype frequency in the controls was 38.37％,54.78％,5.85％ and 74.75％,17.69％,7.56％ respectively,while the frequency in ARCs was 39.58％,54.17％,6.25％ and 71.81％,20.97％,7.22％,respectively.And there was no significant difference between the two groups (P ＞ 0.05).Conclusion All the five SNPs of SIRT1 gene are not associated with ARC in the Jiangsu Han population.