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目的 探讨瘦素受体 (leptinreceptor,Lepr)基因第 2 0外显子 30 5 7位G→A变异与 2型糖尿病患者脂代谢紊乱、胰岛素抵抗及血高凝状态的关系。方法 90例 2型糖尿病患者 ,114例正常糖耐量体检者 ,应用聚合酶链反应 -限制性酶切片段长度多态性 (PCR -RFLP)测定Lepr 30 5 7位基因变异频率 ,同时检测血糖、血脂、身高、体重、腰围、臀围及血高凝状态指标 ,按公式计算体重指数 (BMI)、脂肪百分比 (Fat% )和胰岛素的敏感指数(ISI)。结果 Lepr 30 5 7位G→A(10 19,Pro→Pro)基因变异频率在 2型糖尿病组为 80 % ,在正常对照组为 6 8% ,两组之间比较 ,差异有重要的统计学意义 (P <0 0 1) ;该基因变异与 2型糖尿病患者的胰岛素敏感指数 (ISI)、部分凝血酶原活性时间 (APTT)成正相关 (P <0 0 1) ,与腰围 /臀围 (WHR)、甘油三酯 (TG)、高密度脂蛋白 (HDL)、体外血栓程度 (ETL)、血小板聚集率 (PAgT)、纤维蛋白原 (FG)成负相关 (P <0 0 5 ) ;在正常对照组 ,该基因变异与体外血栓长度 (ETL)、血小板聚集率 (PAgT)成负相关 (P <0 0 5 )。结论 中国人糖尿病患者中存在Lepr第 2 0外显子基因变异 ,其变异主要影响 2型糖尿病患者脂质代谢和局部体脂分布 ,并参与胰岛素抵抗和血高凝状态的发生
Objective To investigate the relationship between the G → A mutation at position 3057 of exon 2 of leptin receptor (Lepr) gene and lipid metabolism disorder, insulin resistance and hypercoagulability in type 2 diabetic patients. Methods Ninety patients with type 2 diabetes mellitus and 114 normal subjects with normal glucose tolerance were enrolled in this study. The mutation frequency of Lepr 30 57 was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) The body mass index (BMI), fat percentage (Fat%) and insulin sensitivity index (ISI) were calculated according to the indexes of blood lipid, height, weight, waist circumference, hip circumference and hypercoagulability. Results The mutation frequency of G → A (10 19, Pro → Pro) gene in Lepr 30 5 was 80% in type 2 diabetes mellitus group and 68% in normal control group. There was significant difference between the two groups (P <0.01). The gene mutation was positively correlated with insulin sensitivity index (ISI) and partial prothrombin time (APTT) in patients with type 2 diabetes mellitus (P <0.01) WHR, TG, HDL, ETL, PAgT and FG were significantly higher than those in control group (P <0.05) The normal control group, the gene mutation and in vitro thrombus length (ETL), platelet aggregation rate (PAgT) has a negative correlation (P <0 05). Conclusion There is a genetic variation of exon 2 of Lepr in Chinese patients with diabetes. The variation mainly affects lipid metabolism and local body fat distribution in patients with type 2 diabetes and is involved in the occurrence of insulin resistance and hypercoagulability