中文摘要：

目的探讨沉默信息调节因子1（SIRT1）基因rs12778366位点和载脂蛋白C3（APOC3）基因rs2854116位点单核苷酸多态性（SNP）与非酒精性脂肪性肝病（NAFLD）发病易感性的关系。方法数据源于2015年苏州市相城区医院体检人群,共收集病例560人,根据B超结果,筛选纳入NAFLD病例132例,随机选取正常对照人群252例,采集血液样本,分析总胆固醇、甘油三酯、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、空腹血糖、丙氨酸氨基转移酶、天门冬氨酸氨基转移酶和血尿酸的血生化指标,及身高、体重、腰围、臀围、血压一般指标,全血中提取DNA,采用聚合酶链反应（PCR）、Mass ARRAY时间飞行质谱技术分析SIRT1 rs12778366和APOC3rs2854116位点基因型。结果 SIRT1 rs12778366位点TC＋CC基因型携带者相对于TT基因型携带者,发生NAFLD的OR=1.126（95%CI 0.673~1.886）,P〉0.05。与APOC3 rs2854116位点CC基因型携带者相比较,TC＋TT基因型携带者发生NAFLD的OR=1.044（95%CI 0.601~1.814）,P〉0.05。校正性别、年龄、体质指数的混杂因素后OR均无明显改变（P〉0.05）。多因素Logistic回归分析显示：甘油三酯、体质指数、空腹血糖、腰围和尿酸是NAFLD发病可能的独立危险因素（P〈0.05）,而SIRT1 rs12778366和APOC3 rs2854116位点基因多态性与NAFLD的发病风险无明显关联。结论 SIRT1 rs12778366和APOC3 rs2854116位点基因多态性与NAFLD的发生无明显相关性,均不会影响NAFLD的发病风险。

英文摘要：

Objective To explore the association of silent information regulator 1（ SIRT1） rs12778366 and apolipoprotein C3（ APOC3） rs2854116 gene polymorphisms with the susceptibility of nonalcoholic fatty liver disease（ NAFLD）. Methods One hundred and thirty two NAFLD patients and 252 healthy controls were enrolled in our present study according to the ultrasound diagnosis and physical examination. Venousblood samples were obtained in the morning after an overnight fast,and the samples were used to analyze the biochemical index,relating to hepatic enzymes,blood lipid and blood glucose metabolism. DNA was extracted from whole blood,and polymerase chain reaction（ PCR） and mass ARRAY were used to determine the genotypes of target genes. Results Compared with TT genotype carriers,the SIRT1 genotype rs12778366 increased the risk of NAFLD,with OR = 1. 126（ 95% CI 0. 673-1. 886）（ P〈0. 05）. The APOC3rs2854116 TC ＋ TT genotype increased the risk of NAFLD compared with CC genotype（ OR = 1. 044,95% CI 0. 601-1. 814,P〉0. 05）. The adjusted odds ratios had no significant changes after adjusting for gender,age and BMI. Logistic regression showed that TG,body mass index（ BMI）,FPG,WC and UA were the independent risk factors for NAFLD（ P〈0. 05）,but the polymorphisms of SIRT1 rs12778366 and APOC3 rs2854116 had no significant relationship with the risk of NAFLD. Conclusion SIRT1 rs12778366 and APOC3 rs2854116 polymorphisms were not associated with NAFLD susceptibility.