Molecular Biology Reports

, Volume 39, Issue 4, pp 5025–5031

Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India

  • Kallur Nava Saraswathy
  • Mohammad Asghar
  • Ratika Samtani
  • Benrithung Murry
  • Prakash Ranjan Mondal
  • Pradeep Kumar Ghosh
  • Mohinder Pal Sachdeva
Article

DOI: 10.1007/s11033-011-1299-8

Cite this article as:
Saraswathy, K.N., Asghar, M., Samtani, R. et al. Mol Biol Rep (2012) 39: 5025. doi:10.1007/s11033-011-1299-8

Abstract

Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups. The frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.

Keywords

MTHFR C677TMTHFR A1298CHaplotypesIndian populations

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Kallur Nava Saraswathy
    • 1
  • Mohammad Asghar
    • 1
  • Ratika Samtani
    • 1
  • Benrithung Murry
    • 1
  • Prakash Ranjan Mondal
    • 1
  • Pradeep Kumar Ghosh
    • 1
  • Mohinder Pal Sachdeva
    • 1
  1. 1.Biochemical and Molecular Lab, Department of AnthropologyUniversity of DelhiDelhiIndia