糖原合成酶基因M416V多态性与2型糖尿病的相关性

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

目的 探讨糖原合成酶 ,即GlycogenSynthase(GS)基因M4 16V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 (PCR RFLP)技术分析2 5 2例T2DM患者、196例非DM对照者GS基因第 10外显子第 4 16号位点上由蛋氨酸 (Methionine)置换成缬氨酸 (Valine)的变异 ,即M4 16V。 结果 (1)T2DM组的GS基因M4 16V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 .0 37。 (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 .0 2 4 ) ,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 .0 0 5 )。 结论 GS基因 4 16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 )

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).