摘要
目的 探讨中国人群中肌肉糖元合酶 (GYS1)基因多态性和β3肾上腺素能受体 (β3 AR)基因Trp6 4Arg变异与 2型糖尿病及其中间表型的相关性。方法 采用聚合酶链反应 寡核苷酸连接测定及限制性片断长度多态性方法 ,对北京地区 10 2对病例 对照配偶对进行GYS1基因Met4 16Val和XbaⅠ多态性以及β3 AR基因Trp6 4Arg多态性的基因型检测。结果 糖尿病组中携带Val4 16等位基因组餐后 2小时血糖值显著高于无变异组 (P =0 0 32 ) ;Met4 16Val多态性与 2型糖尿病不相关 (调整OR =1 6 7;95 %CI :0 73- 3 81,P =0 2 2 3) ;在糖尿病组Trp6 4Arg突变携带者与非携带者相比血尿酸显著升高P =0 0 34;Arg6 4联合高BMI时可使 2型糖尿病发病危险增加 4倍 (调整OR =4 0 0 ;95 %CI:1 5 3- 10 4 5 ,P =0 0 0 5 )。结论 在中国人群中Met4 16Val变异与 2型糖尿病的餐后 2小时血糖相关 ,可以部分解释某些 2型糖尿病患者的餐后高血糖 ;糖尿病患者携带Arg6
Objective To determine the relationships of Met416Val and XbaI polymorphism of muscle glycogen synthase (GYS1) gene and Trg64Arg variant of the β 3 adrenergic receptor (β 3 AR) gene with type 2 diabetes mellitus (DM) and its intermediate phenotypes in the Chinese population Methods Polymerase chain reaction oligonucleotide ligation assay and restriction fragment length polymorphism assay were used to evaluate the GYS1 and β 3 AR gene polymorphisms in 102 pairs of case control Chinese spouses Results Subjects with Met416Val variant had a significantly higher 2 hour post glucose level than subjects without this variant had in diabetic group ( P =0 032) The Met416Val polymorphism of GYS1 gene was not significantly associated with the risk of type 2 DM (adjusted OR=1 67; 95% CI: 0 73-3 81, P =0 223) Subjects with Trp64Arg variant had a significantly higher serum uric acid level than subjects without this variant had in diabetic group ( P =0 034) The combination of BMI and Arg64 allele carrier of the β 3 AR gene increased the diabetic risk over four fold (adjusted OR=4 00; 95%CI: 1 53-10 45, P =0 005) Conclusions In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2 hour post glucose It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level The presence of the Arg64 allele in the β 3 AR gene may predispose patients to higher serum uric acid level
关键词
肌肉糖元合酶基因
Β3肾上腺素能受体基因
2型糖尿病
餐后血糖
血尿酸
muscle glycogen synthase gene· β3 adrenergic receptor gene· type 2 diabetes mellitus · postprandial glucose · serum uric acid