糖尿病分子生物学和遗传学

　　[摘要] 目的 探讨血清同型半胱氨酸(Hcy)水平与亚甲基四氢叶酸还原酶(MTHFR)基因多态性对T2DM患者发生脑梗死的影响。 方法 对81例T2DM合并脑梗死(T2DM+脑梗死)组及325例单纯T2DM(T2DM)组血清Hcy、叶酸水平及MTHFR基因多态性等项目行统计学分析。 结果 T2DM+脑梗死组与T2DM组MTHFR基因第677位T等位基因率及TT突变基因率分别为64.15%、60.15%和42.5%、34.5%(P>0.05)。TT型Hcy水平为(14.4士7.86) mmol/L，而CC型血清Hcy水平为(10.58士3.37) mmol/L(P<0.01)。 结论 MTHFR基因多态性与T2DM患者发生脑梗死无相关性;MTHFR基因C677T突变基因型与高Hcy血症相关。

　　[关键词] 糖尿病，2型;脑梗死;同型半胱氨酸;亚甲基四氢叶酸还原酶(NADPH)

　　[Abstract] Objective To investigate the relationship of plasma homocysteine and the polymorphism of MTHFR gene with ischemic stroke in type 2 diabetes. Methods Serum Hcy, folic acid and the polymorphism of MTHFR gene were compared among 81 T2DM patients with ischemic stroke (T2DM+IS) and 325 T2DM patients without cerebral infarction(T2DM). Results All the genotypes of T2DM group and T2DM+IS group followed the hardy-weinberg law. There was no significant difference in the frequency of mutant alleles (T) in site 677 of MTHFR gene and in frequency of TT genotype between the groups of T2DM and T2DM+IS (64.15% vs 60.15%, P>0.05 and 42.5% vs 34.5%, P>0.05).The concentration of Hcy was significantly higher in patients with TT genotype than with CC genotype(14.4±7.86)mmol/L vs(10.58±3.37)mmol/L(P<0.01). Conclusion There is no correlation between polymorphism of MTHFR gene and stroke in T2DM patients. The mutation of MTHFR C677T is associated with hyperhomocysteinemia.

　　[Key Words]Diabetes Mellitus，type 2; Brain Infarction;HomocysteineMethylenetetrahydrofolateReductase (NADPH2)