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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 4等位基因可以预示具有较高的血尿酸水平
Objective To investigate the association between GYS1 gene polymorphism and Trp6 4Arg mutation of β3 adrenergic receptor (β3 AR) gene and type 2 diabetes mellitus and its intermediate phenotype in Chinese population. Methods Polymerase chain reaction (PCR) oligonucleotide ligation assay and restriction fragment length polymorphism (PCR-RFLP) were used to detect the Met4 16Val and XbaⅠ polymorphisms of GYS1 gene and Trp6 4Arg polymorphism of β3 AR gene in 102 maternal cases in Beijing Sexual genotyping. Results The blood glucose level of Val4 16 allele in patients with diabetes mellitus was significantly higher than that of patients without HBV mutation at 2 hours (P = 0.0032). Met4 16Val polymorphism was not associated with type 2 diabetes (adjusted OR = 1 67; 95 % CI: 073-321, P = 0223). In the diabetic group, the serum and uric acid levels of Trp6 4Arg mutation carriers were significantly higher than those of non-carriers (P = 0 0 34); Arg6 4 combined with high BMI The risk of type 2 diabetes increased 4-fold (adjusted OR = 400; 95% CI: 15 3-10 4 5, P = 0 0 05). Conclusions Met4 16Val mutation in Chinese population correlates with 2-hour postprandial blood glucose in type 2 diabetes, which may partially explain postprandial hyperglycemia in some type 2 diabetic patients. Arg6 4 alleles in diabetic patients may indicate higher blood Uric acid levels