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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。
Objective To investigate the susceptibility of rs12778366 and rs2854116 of apolipoprotein C3 (APOC3) gene to the pathogenesis of non-alcoholic fatty liver disease (NAFLD) in SIRT1 gene relationship. Methods Data were collected from the medical examination population of Xiangcheng District Hospital in Suzhou City in 2015. A total of 560 cases were collected. According to the results of B-ultrasound, 132 cases of NAFLD were screened and 252 cases of NAFLD were randomly selected. Blood samples were collected for analysis of total cholesterol, HDL cholesterol, fasting plasma glucose, alanine aminotransferase, aspartate aminotransferase, and serum uric acid were measured by ELISA and serum biochemical parameters such as height, weight, waist circumference, hip circumference, blood pressure General indicators, DNA was extracted from whole blood, genotypes of SIRT1 rs12778366 and APOC3 rs2854116 were analyzed by polymerase chain reaction (PCR) and Mass ARRAY time-of-flight mass spectrometry. Results The odds ratio (OR) of NAFLD was 1.126 (95% CI 0.673-1.886), P> 0.05 for carriers of TC + CC genotype in SIRT1 rs12778366 locus relative to TT genotype carriers. Compared with CC genotype carriers of APOC3 rs2854116 locus, OR of 1.044 (95% CI 0.601 ~ 1.814) of NAFLD in carriers of TC + TT genotype was significant (P> 0.05). Correction of gender, age, body mass index of the confounding factors OR no significant change (P> 0.05). Multivariate Logistic regression analysis showed that triglyceride, body mass index, fasting blood glucose, waist circumference and uric acid were the independent risk factors of NAFLD (P <0.05), while the polymorphisms of SIRT1 rs12778366 and APOC3 rs2854116 were associated with the incidence of NAFLD There is no obvious correlation between risks. Conclusion There is no significant correlation between the gene polymorphisms of SIRT1 rs12778366 and APOC3 rs2854116 loci and the incidence of NAFLD, which will not affect the risk of NAFLD.