Wang Guoying, Li Qiongfang, Niu Tianhua, Chen Changzhong, Xu Xiping
Department of Endocrinology, The Third Hospital of Beijing University, China.
Chin Med J (Engl). 2002 Sep;115(9):1308-11.
To determine the relationships of Met416Val and XbaI polymorphism of muscle glycogen synthase (GYS1) gene and Trg64Arg variant of the beta(3)-adrenergic-receptor (beta(3)-AR) gene with type 2 diabetes mellitus (DM) and its intermediate phenotypes in the Chinese population.
Polymerase chain reaction-oligonucleotide ligation assay and restriction fragment length polymorphism assay were used to evaluate the GYS1 and beta(3)-AR gene polymorphisms in 102 pairs of case-control Chinese spouses.
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 beta(3)-AR gene increased the diabetic risk over four-fold (adjusted OR = 4.00; 95% CI: 1.53 - 10.45, P = 0.005).
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 beta(3)-AR gene may predispose patients to higher serum uric acid level.
确定中国人群中肌肉糖原合酶(GYS1)基因的Met416Val和XbaI多态性以及β3 - 肾上腺素能受体(β3 - AR)基因的Trg64Arg变异与2型糖尿病(DM)及其中间表型之间的关系。
采用聚合酶链反应 - 寡核苷酸连接分析和限制性片段长度多态性分析,对102对中国病例对照配偶的GYS1和β3 - AR基因多态性进行评估。
在糖尿病组中,携带Met416Val变异的受试者葡萄糖餐后2小时水平显著高于未携带该变异的受试者(P = 0.032)。GYS1基因的Met416Val多态性与2型糖尿病风险无显著相关性(校正OR = 1.67;95% CI:0.73 - 3.81,P = 0.223)。在糖尿病组中,携带Trp64Arg变异的受试者血清尿酸水平显著高于未携带该变异的受试者(P = 0.034)。β3 - AR基因的BMI与Arg64等位基因携带者的组合使糖尿病风险增加了四倍多(校正OR = 4.00;95% CI:1.53 - 10.45,P = 0.005)。
在中国人群中,Met416Val多态性在餐后2小时血糖高的糖尿病患者亚组中被发现。这将解释为什么一些糖尿病患者似乎在遗传上易患餐后高血糖水平。β3 - AR基因中Arg64等位基因的存在可能使患者易患更高的血清尿酸水平。