载脂蛋白C3启动子区基因多态性与非酒精性脂肪性肝病的相关性

Association between APOC3 promoter region polymorphisms and non-alcohofic fatty fiver disease

目的探讨载脂蛋白（APO）C3基因启动子区两位点多态性T-455C、C-482T与非酒精性脂肪性肝病（NAFLD）遗传易感性的相关性。方法对287例NAFLD患者和310名正常对照采用多聚酶链反应（PCR）及基因型检测方法对两变异位点进行基因型检测。随机选取180人采用酶联免疫吸附试验（ELISA）测定APOC3的含量。并比较各组基因型频率、等位基因频率及临床资料。根据数据资料的不同，分别行PearsonX。检验、logistic回归分析、t检验、χ^2检验或行线性回归分析。结果-455、-482位点基因型及等位基因在NAFLD组与对照组中的分布频率差异无统计学意义（P〉0．05）。相对于野生型-455TT或-482CC，含突变位点基因型未增加NAFLD的发病风险，经多变量logistic回归分析校正混杂因素后，含等位基因-455C、-482T的基因型携带者发生NAFLD的比值比（OR及95％CI）分别为1．25（0．79～1．96）及1．20（0．76～1．89），P〉0．05。临床资料及各生物化学指标在野生型组及含突变位点组中均未见明显差异（P〉0．05）。结论在汉族人群中，APOC3基因启动子区两位点多态性与NAFLD的发生无明显相关性。

Objeelive To investigate the association between two polymorphisms of the APOC3 gene （T-455C and C-482T） and hereditary risk of non-alcoholic fatty liver disease （NAFLD）. Methods A total of 287 patients with NAFLD and 310 control subjects were genotyped by PCR and direct sequencing. Serum lipid profiles were also detected by standard biochemical methods. One-hundred-and-eighty of the study participants were used to measure the APOC3 content by enzyme-linked immunosorbent assay. Inter-group differences and associations were assessed statistically using Chi square and t tests and logistic and linear regression analyses. Results The frequencies of neither the genotypes or alleles were significantly different between the NAFLD cases and the controls. Compared with the most common genotypes -455TT or -482CC, none of the variants showed a significant increase in risk of NAFLD or for the clinical and biochemical parameters. The adjusted odds ratios （with 95% confidence intervals） of NAFLD were 1.25 （0.79 - 1.96） and 1.20 （0.76 - 1.89） for carriers of the APOC3 -455C and -482 T variants respectively （P 〉 0.05）. Conclusion The T-455C and C-482T polymorphisms of the APOC3 gene are not associated with risk of NAFLD, pathogenic changes in lipid profiles, or insulin resistance in Han Chinese.