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甲烯四氢叶酸还原酶 (ＭＴＨＦＲ)基因中存在一个常见的热不稳定性遗传变异 ( 677Ｃ→Ｔ) ,这种变异导致ＭＴＨＦＲ中的丙氨酸被缬氨酸取代 ,从而使酶活性下降 ,损害了同型半胱氨酸至甲硫氨酸的再甲基化 ,最后导致高同型半胱氨酸血症。已报道 677Ｔ等位基因与 2型糖尿病的糖尿
A common thermostable genetic variation (677C → T) exists in the methylenetetrahydrofolate reductase (MTHFR) gene, which results in the substitution of valine for alanine in MTHFR, resulting in a decrease in enzyme activity, Impair the remethylation of homocysteine to methionine, and finally lead to hyperhomocysteinemia. 677T allele and type 2 diabetes have been reported