MTHFR C677T polymorphism and recurrent early pregnancy loss risk in north Indian population

Reprod Sci. 2012 Feb;19(2):210-5. doi: 10.1177/1933719111417888. Epub 2011 Dec 2.

Abstract

Recurrent early pregnancy loss (REPL) is a multifactorial disorder as both genetic and environmental factors contribute to the development of disease. Folate metabolism is an important mechanism to ensure proper fetal growth. Hyperhomocysteinemia leads to a number of disorders and REPL is one of them. In a case-control study DNA from 106 cases with the history of 3 or more REPL and 140 healthy fertile controls with successful pregnancy outcomes were genotyped for C677T single-nucleotide polymorphism (SNP) of the MTHFR (methylenetetrahydrofolate reductase) gene through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), which was further confirmed by sequencing. Allele frequencies of REPL cases were compared with healthy controls and a statistically significant association was found between REPL and the mutant T allele (χ² = 8.786, odds ratio [OR] = 2.20, 95% confidence interval [CI] = 1.323-3.9658, P = .003). The genotype frequencies of SNP C677T also differ significantly between these 2 groups (χ² = 8.237, P = .016). The OR for heterozygous CT in the REPL versus controls is 1.9591 (95% CI = 1.0285-3.7318, P = .04). The OR for TT homozygous is 6.3009 (95% CI = 1.2065, P = .02). Combined odds ratio of CT and TT against the control has been calculated as 2.2194 (95% CI = 1.2029-4.0952, P = .02) which is also significant. Thus the present study clearly indicates that homozygosity and heterozygosity for the MTHFR C677T polymorphism confer a 6.3009- and 1.9591-fold increased risk of idiopathic REPL, respectively.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Case-Control Studies
  • Embryo Loss / genetics*
  • Female
  • Genetic Association Studies
  • Humans
  • India
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Polymorphism, Single Nucleotide*
  • Pregnancy

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)