Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydroflate reductase gene: Evaluating gene-environment interactions

Charlotte A. Hobbs, S. Jill James, Stefanie Jernigan, Stepan Melnyk, Yunxia Lu, Sadia Malik, Mario A. Cleves

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

Objective: This study was undertaken to investigate the association between congenital heart defects (CHD), and maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism. Study design: Plasma homocysteine concentrations, smoking status, and MTFHR 677 genotypes were determined in 275 white women who had pregnancies affected by CHDs and 118 white women who had a normal pregnancy. Results: Homocysteine concentrations were significantly higher among women who had affected pregnancies (P < .0001). The highest estimated risk for having a CHD-affected pregnancy was among women who were smokers, were in the highest quartile for homocysteine, and had the MTHFR 677 CC genotype (odds ratio [OR] 11.8; 95% CI 2.6-53.3). Conclusion: Many CHDs are due to a complex interaction between lifestyle factors and genetic susceptibilities. Our results suggest that the combined effect of elevations in maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism increase the risk of having a CHD-affected pregnancy.

Original languageEnglish (US)
Pages (from-to)218-224
Number of pages7
JournalAmerican journal of obstetrics and gynecology
Volume194
Issue number1
DOIs
StatePublished - Jan 1 2006

Keywords

  • Adverse pregnancy outcomes
  • Birth defects
  • Folic acid
  • Genetic susceptibility
  • Tobacco

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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