MTHFR C677T POLYMORPHISM AMONG MEITEIS OF MANIPUR (INDIA)

作者：Kabita Salam; Singh Huidrom Suraj; Chongtham Dhanaraj Singh; Saraswathy Kallur Nava^*

来源：Ethnicity & Disease, 2013, 23(3): 379-381.

• Methylenetetrahydrofolate Reductase
• Meiteis
• Polymorphism

Background: The enzyme MTHFR catalyses the irreversible conversion of 5,10-methylene-tetrahydrofolate 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.
Objective: 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.
Methods: 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.
Results: 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.
Conclusion: 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.

• 出版日期2013
• 单位河北医科大学