Biochemical and Molecular Laboratory, Department of Anthropology, University of Delhi, Delhi-110007, India.
Ethn Dis. 2013 Summer;23(3):379-81.
The enzyme MTHFR catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which serves as a methyl donor in the reaction converting homocysteine to methionine. Mutation at MTHFR gene (C677T) has been implicated in the pathogenesis of common complex diseases such as thrombosis, hypertension, stroke, myocardial infarction, and recurrent pregnancy loss across world populations.
We wanted to explore C677T mutation among Meiteis of Manipur to generate baseline data and to gain information that could be used in disease prevention programs.
A total of 1142 (625 males and 517 females) unrelated individuals aged 35 to 75 years were involved in the study. 1098 samples could be genotyped for MTHFR C677T polymorphism.
MTHFR C677T was found to be polymorphic in the Meitei population studied. Around 30% of individuals are carrying the mutant allele either in heterozygous or homozygous condition with T allele frequency of .16.
Among study participants, those with T allele frequency of .16 may be predisposed to complex diseases, if their active lifestyles are shifted to sedentary lifestyles. Relatively lower frequency of T allele among individuals of younger age (though not significant) is indicative of selective disadvantage of this allele in the recent years.
酶 MTHFR 催化不可逆转化 5,10-亚甲基四氢叶酸为 5-甲基四氢叶酸，后者作为供甲基体参与将同型半胱氨酸转化为蛋氨酸的反应。MTHFR 基因（C677T）突变与血栓形成、高血压、中风、心肌梗死和复发性妊娠丢失等常见复杂疾病的发病机制有关，在世界人群中均有发现。
我们希望探索曼尼普尔邦梅泰人的 C677T 突变，以生成基线数据，并获取可用于疾病预防计划的信息。
本研究共纳入 1142 名（625 名男性和 517 名女性）年龄在 35 至 75 岁之间的无关个体。对 1098 个样本进行 MTHFR C677T 多态性基因分型。
在所研究的梅泰人群中，MTHFR C677T 存在多态性。约 30%的个体携带突变等位基因，无论是杂合子还是纯合子，T 等位基因频率为.16。
在研究参与者中，那些 T 等位基因频率为.16 的个体如果从积极的生活方式转变为久坐的生活方式，可能更容易患上复杂疾病。年龄较小的个体中 T 等位基因的频率相对较低（尽管没有统计学意义），表明该等位基因在近年来具有选择劣势。
