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目的 研究瘦素受体基因 (leptinreceptor ,Lepr)第 2 0外显子基因变异与 2型糖尿病患者各临床变量 (如体重指数、腰围、臀围、收缩压、舒张压、空腹血糖、甘油三酯、总胆固醇等 )的关系。方法 用聚合酶链反应 限制性酶切片段长度多态性 (PCR RFLP)测定 90例 2型糖尿病患者Lepr第 2 0外显子基因变异频率 ,常规检测血糖、甘油三酯、总胆固醇和高密度脂蛋白 ,于相同条件下测身高、体重 ,腰围和臀围 ,按公式计算体重指数 (BMI)、脂肪百分比 ( %Fat)和胰岛素敏感指数(ISI)。结果 中国湖北地区糖尿病患者中存在Lepr第 2 0外显子基因变异 ,其中 2 92 7位C→A(Ala976Asp)变异频率为 10 0 % ,30 5 7位G→A(Pro10 19Pro)总的变异频率为 80 % ;其 30 5 7位G→A变异与肥胖型 2型糖尿病患者的胰岛素敏感指数呈负相关 (P <0 .0 0 1) ,与女性糖尿病患者的腰围/臀围呈正相关 (P <0 .0 5 ) ;Logistic回归分析发现 ,Lepr基因 30 5 7位G→A变异与体重指数(BMI)、腰围 /臀围、舒张压、甘油三酯呈正相关 ,与高密度脂蛋白及ISI呈负相关。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、局部体脂分布并参与胰岛素抵抗的发生。
Objective To investigate the relationship between the genetic variation of exon 2 of leptin receptor gene (Lepr) and the clinical variables of type 2 diabetes (body mass index, waist circumference, hip circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, triglyceride , Total cholesterol, etc.). Methods The genotypes of Lepr gene in 90 patients with type 2 diabetes were detected by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Frequencies of blood glucose, triglyceride, total cholesterol and high density Lipoprotein, body height, weight, waist circumference and hip circumference under the same conditions, according to the formula body mass index (BMI), fat percentage (% Fat) and insulin sensitivity index (ISI). Results There was a genetic variation in exon 2 of Lepr in diabetic patients in Hubei Province, China. The mutation frequency of 10 9% C → A (Ala976Asp) at 2 92 7 and the general variation of Pro 10 19Pro at 30 5 7 The frequency was 80%. The G + A mutation at 30 5 7 was negatively correlated with the insulin sensitivity index (P <0.01) of obese type 2 diabetic patients and positively correlated with the waist circumference and hip circumference of female patients with diabetes P <0.05). Logistic regression analysis showed that the G → A mutation at 30 5 7 of Lepr gene was positively correlated with body mass index (BMI), waist circumference / hip circumference, diastolic blood pressure and triglyceride, and high density lipoprotein ISI was negatively correlated. Conclusion There is a genetic variation of exon 2 of Lepr in Chinese patients with diabetes mellitus. The variation mainly affects lipid metabolism, local body fat distribution and insulin resistance in type 2 diabetic patients.