TY - JOUR
T1 - Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydroflate reductase gene
T2 - Evaluating gene-environment interactions
AU - Hobbs, Charlotte A.
AU - James, S. Jill
AU - Jernigan, Stefanie
AU - Melnyk, Stepan
AU - Lu, Yunxia
AU - Malik, Sadia
AU - Cleves, Mario A.
PY - 2006/1
Y1 - 2006/1
N2 - 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.
AB - 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.
KW - Adverse pregnancy outcomes
KW - Birth defects
KW - Folic acid
KW - Genetic susceptibility
KW - Tobacco
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U2 - 10.1016/j.ajog.2005.06.016
DO - 10.1016/j.ajog.2005.06.016
M3 - Article
C2 - 16389035
AN - SCOPUS:29544453082
SN - 0002-9378
VL - 194
SP - 218
EP - 224
JO - American journal of obstetrics and gynecology
JF - American journal of obstetrics and gynecology
IS - 1
ER -