Molecular Biology Reports

, Volume 39, Issue 4, pp 5025–5031 | Cite as

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


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.


MTHFR C677T MTHFR A1298C Haplotypes Indian populations 



We would like to extend our gratitude to the University Grant Commission (UGC) for Special Assistant Programme (SAP) and also the Department of Biotechnology, Govt. of India for the financial support for the collection of samples. We are also thankful to Dr. Deepti Shukla, Dr. Harpreet Kaur, Dr. Yaiphaba Meitei and Dr. Somibabu Meitei for helping in the collection of blood samples.


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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

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