Prevalence of MTHFR, Factor V, ACE and APOE gene polymorphisms among Muslims of Manipur, India

Ann Hum Biol. 2013 Jan;40(1):83-7. doi: 10.3109/03014460.2012.737832. Epub 2012 Oct 31.


Background: Chronic metabolic disorders such as cardiovascular disease and diabetes have become an emerging public health problem in India, in both rural and urban settings. Genetic markers like MTHFR, FV, ACE and APOE are important candidates involved in the development of these disorders.

Aim: The present study aims to understand the distribution of allele frequencies of the SNPs in the above-mentioned genes in Manipuri Muslims, an endogamous religious community constituting ~8% of the Manipur population.

Sample and methods: Blood samples were collected from 107 unrelated healthy individuals. Genotyping were done by PCR (for ACE I/D and MTHFR A1298C) followed by restriction digestion (for MTHFR C677T, FV G1691A and APOE).

Results and discussion: All four SNPs, with the exception of FVL, were found to be polymorphic, with allele frequencies of 15.1%, 17%, 36.1% and 7.7% for MTHFR 677T, MTHFR 1298C, ACE D and APOE E4, respectively. The D allele of ACE I/D polymorphism was found to be significantly higher among males and also among the young age group compared with females and the old age groups, respectively. This study has highlighted the necessity of looking at the clinical implications of these SNPs in future studies of Manipuri Muslims.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Apolipoproteins E / genetics*
  • Factor V / genetics*
  • Female
  • Gene Frequency
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • India
  • Islam*
  • Male
  • Metabolic Diseases / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Single Nucleotide*
  • Sex Factors
  • Young Adult


  • Apolipoproteins E
  • Genetic Markers
  • Factor V
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • ACE protein, human
  • Peptidyl-Dipeptidase A