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Abstract
Background: Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been suggested to be positively associated with several disorders. Distribution of the mutant T-allele varies in ethnic and geographical populations of the world.
Aim: The aim of the present study was to investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in a transhumant (Gaddi) tribal population of Himachal Pradesh dwelling at high and middle altitude and exposed to strong ultraviolet radiation.
Method and results: A total of 486 samples (141 males and 345 females) were randomly enrolled from the individuals aged 25–75 years who were unrelated up to first cousin. Among Gaddis, genotype frequencies of CC, CT and TT were 67.90%, 27.78% and 4.32%, respectively. Among males and females distribution of genotype frequencies also followed a similar trend. The studied population was in Hardy–Weinberg equilibrium (χ2 = 2.213, df = 1, p = 0.136). Frequency of mutant T-allele in the Gaddi population was found to be 0.183, which might be due to European ancestry, endogamous nature and selection.
Acknowledgements
We are very thankful to the Department of Anthropology for allowing us to do this work and DU/DST Purse grant for providing the financial assistance. We are also very thankful to the people of Gaddi tribe who volunteered in this study.