CAJ | 학술논문

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Trp64Arg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102对病例-对照配偶对进行GYS1基因Met416Val和 XbaⅠ多态性以及β3-AR基因Trp64Arg多态性的基因型检测. 结果糖尿病组中携带Val416等位基因组餐后2小时血糖值显著高于无变异组(P=0.032);Met416Val 多态性与2型糖尿病不相关(调整 OR=1.67; 95%CI: 0.73-3.81, P=0.223);在糖尿病组Trp64Arg突变携带者与非携带者相比血尿酸显著升高P=0.034;Arg64联合高BMI时可使2型糖尿病发病危险增加4倍(调整OR=4.00; 95%CI: 1.53-10.45, P=0.005).结论在中国人群中Met416Val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Arg64等位基因可以预示具有较高的血尿酸水平.
목적탐토중국인군중기육당원합매(GYS1)기인다태성화β3신상선소능수체(β3-AR)기인Trp64Arg변이여2형당뇨병급기중간표형적상관성. 방법채용취합매련반응-과핵감산련접측정급한제성편단장도다태성방법,대북경지구102대병례-대조배우대진행GYS1기인Met416Val화 XbaⅠ다태성이급β3-AR기인Trp64Arg다태성적기인형검측. 결과당뇨병조중휴대Val416등위기인조찬후2소시혈당치현저고우무변이조(P=0.032);Met416Val 다태성여2형당뇨병불상관(조정 OR=1.67; 95%CI: 0.73-3.81, P=0.223);재당뇨병조Trp64Arg돌변휴대자여비휴대자상비혈뇨산현저승고P=0.034;Arg64연합고BMI시가사2형당뇨병발병위험증가4배(조정OR=4.00; 95%CI: 1.53-10.45, P=0.005).결론재중국인군중Met416Val변이여2형당뇨병적찬후2소시혈당상관,가이부분해석모사2형당뇨병환자적찬후고혈당;당뇨병환자휴대Arg64등위기인가이예시구유교고적혈뇨산수평.
Objective To determine the relationships of Met416Val and XbaI polymorphism of muscle glycogen synthase (GYS1) gene and Trg64Arg variant of the β3-adrenergic-receptor (β3-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 β3-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 β3-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 β3-AR gene may predispose patients to higher serum uric acid level.