β_3-肾上腺能受体基因Trp64Arg变异与Ⅱ型糖尿病的关系

THE Trp64Arg VARIATION IN β_3 ADRENERGIC RECEPTOR GENE AND TYPE Ⅱ DIABETES MELLITUS

目的 :探讨中国人 型糖尿病与 β3 -肾上腺能受体 ( β3 - AR)基因 Trp64Arg变异的关系。 方法 :采用多聚酶链反应 -限制性片段长度多态性 ( PCR- RFLP)技术对无亲缘关系的山东省汉族 2 1 2例 ( 型糖尿病组 1 32例 ,非糖尿病组 80例 )的β3 -肾上腺能受体基因 Trp64Arg突变进行检测。 结果 :两组β3 - ARTrp和 Arg等位基因分布频率分别为 0 .84,0 .1 6和 0 .87,0 .1 3,二者无显著差异 ( P>0 .0 5) ,提示β3 - AR基因多态性与 型糖尿病的发生无密切关联。但 Arg纯合子体重指数、舒张压、血清甘油三脂、空腹血 C肽水平较高 ( P<0 .0 5) ,高密度脂蛋白胆固醇水平较低 ( P<0 .0 5) , 型糖尿病发病年龄较早 ( P<0 .0 5)。 结论 :中国山东省汉族中 ,存在β3 - AR基因变异。该突变杂合子型可能不是 型糖尿病的主要决定因素 ,但纯合子型可导致 型糖尿病早发。

Objective: To probe into the relationship between the Trp64Arg mutation in β 3 adrenergic receptor (β 3 AR) gene and type Ⅱ diabetes mellitus in Chinese.Methods: A total of 212 unrelated subjects of Han nationality (132 case of type Ⅱ diabetes and 80 non diabetic controls) from Shandong Province were screened for the detection of the Trp64Arg mutation in β 3 AR gene by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Results: The frequencies of Trp and Arg alleles in type Ⅱ diabetic groups were respectively 0.84, 0.16 and 0.87, 0.13(P>0.05), and no close correlation between the β 3 AR gene polymorphism and type Ⅱ diabetes in Shandong population was found. But significantly higher body mass index(BMI), diastolic blood pressure(DBP), serum triglyceride (TG), fasting blood C peptide(C P) and lower high density lipoprotein cholesterol (HDL C) levels were observed in the homozygous individuals with wild type genotype Arg/Arg. These hemozygotes Trp64Arg tend to have an earlier age of onset than normal ones.Conclusion: The variation in β 3 AR gene is found in Shandong, China. The mutation with heterozygotes Trp64Arg Cant be a decisive factor leading to type Ⅱ diabetes mellitus and obesity. However, those with homozygotes Trp64Arg tend to have an earlier onset of type Ⅱ diabetes.