内脏素基因多态性与2型糖尿病患者合并非酒精性脂肪肝的关联

目的分析内脏素基因多态性分布与中国汉族人群2型糖尿病患者合并非酒精性脂肪肝的关系。方法选择2型糖尿病患者208例,其中男124例,女84例,依据2002年非酒精性脂肪肝诊断标准,分为合并NAFL组98例,未合并NAFL组110例,同时选择性别、年龄匹配与之匹配的100例健康体检者为对照组,所有受试对象均为中国汉族人。应用酶连接检测反应（LDR）测序的方法进行内脏素基因启动子区-3186、-2423、-1001位点的基因多态性分析。结果①内脏素基因启动子区-3186位点有CC、CT、TT三种基因型,变异率为79.22%;-1001位点有AA、AC两种基因型,变异率较低为2.32%;-2423位点在两组均为AA纯合子。②内脏素基因-3186位点的基因型、等位基因频率在2型糖尿病合并NNAFL、无脂肪肝组及正常对照组间差异亦无显著性（P〉0.05）。结论中国汉族人群内脏素基因-3186位点的基因多态性与2型糖尿病患者合并非酒精性脂肪肝无关。

Relationship between Genetic Polymorphism of Internal Organs and Patients with Type 2 Diabetes and Nonalcoholic Fatty Liver

Objective To explore the relationship between genetic polymorphism of internal organs and Han Chinese patients with Type 2 diabetes（T2DM） and Nonalcoholic fatty liver（NAFL）.Methods Two hundred and eight patients of T2DM were selected,including one hundred and twenty-four male and eighty-four female patients.Two hundred and eight patients were divided into NAFL and NAFL with T2DM groups,one hundred and ten cases in NAFL group and ninety-eight cases in NAFL with T2DM group according to the diagnostic standard of NAFL in 2002.Meanwhile,one hundred health check-ups were selected as control group who were matched well for gender and age,all subjects were Han Chinese.Ligase detection reaction（LDR） was used for genetic polymorphism analysis of promotor site-3186,-2423 and-1001.Results CC,CT and TT gene types were observed at genetic promotor site-3186 of internal organs,mutation rate was 79.22%.AA and AC gene types were observed at genetic promotor site-1001,mutation rate was 2.32%.AA gene type was observed at genetic promotor site-2423.No significant differences were found among NAFL,NAFL with T2DM and control groups with respect to gene type and allele frequency at promotor site-3186（P 0.05）.Conclusions There was no significant relationship between Han Chinese patients with T2DM and NAFL and genetic polymorphism of internal organs at promotor site-3186.