糖原合成酶基因M416V多态性与2型糖尿病的相关性

目的 探讨糖原合成酶，即Glycogen Synthase(GS)基因M416V多态性与2型糖尿病(T2DM)的相关性。方法 利用聚合酶链式反应限制性片段长度多态性(PCRRFLP)技术分析252例T2DM患者、196例非DM对照者GS基因第10外显子第416号位点上由蛋氨酸(Methionine)置换成缬氨酸(Valine)的变异，即M416V。结果 (1)T2DM组的GS基因M416V的Val等位基因频率为10．3％，对照组的Val等位基因频率为6．4％；T2DM组中的Val等位基因频率显著高于对照组，P-0．037。(2)在T2DM组中，具有GS基因Val等位基因者的BMI值明显高于无Val等位基因者(P-0、024)，具有GS基因Val等位基因者的2hPG值明显高于无Val等位：基因者(P-0．005)。结论 GS基因416位点上的Val等位基因与T2DM的发病有一定的相关性，并且它可能参与胰岛素抵抗(肥胖、高血压、高血脂等)的发生。

The association of glycogen synthase gene polymorphism (M416V) with type 2 diabetes in the Chinese population

Objective To investigate the association of the M416V(Methionine to Valine at position 416 in the exon 10) polymorphism of muscle glycogen synthase (GS) gene with type 2 diabetes mellitus (DM) in the Chinese population. Methods Genotypes were determined by PCR RFLP in 252 type 2 DM patients and 196 non diabetic controls. Results (1) The frequency of allele Val(Valine) of M416V was 10.3% in type 2 DM patients and 6.4% in the control subjects. It was significantly higher than the control subjects ( P =0.037). (2) The BMI(Body mass index) of type 2 DM patients with allele Val was significantly higher than those of type 2 DM patients without allele Val ( P =0.024). The 2 hPG (Plasma glucose) of type 2 DM patients with allele Val was also significantly higher than those of type 2 DM patients without allele Val ( P =0.005). Conclusion The Val allele of GS gene M416V polymorphism may be associated with type 2 DM onset in the Chinese, and it also could be involved in its development in the insulin resistant (obest, hypertension and hyperlipemia, etc).