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OBJECTIVETo understand the relationship between MTHFR 677C/T polymorphism and general status of pregnant women and offspring congenital heart disease (CHD).METHODSA case-control study was conducted among the biological mothers of 100 infants with CHD and 100 healthy controls to collect the information about their demographic characteristics, general status during pregnancy and awareness of eugenics. Their MTHFR 677C/T polymorphism and serum homocysteine (HCY), folic acid, vitamin B12 levels were detected.RESULTSThe differences in MTHFR genotype and allele frequency between the two groups were not statistical significant (χ² =1.08, P=0.582; χ² =0.53, P=0.468) , but the difference in serum HCY between two groups were statistical significant (t=-8.14, P=0.000). Univariate analysis showed that 14 factors had statistical significances (P<0.05). Multivariate logistic regression analysis indicated that mother's educational level (OR=3.386, 95% CI: 1.279-8.961), annual household income (OR=8.699, 95% CI: 2.177-34.765), chronic disease prevalence (OR=0.343, 95% CI: 0.134-0.881) , awareness of eugenics (OR=0.906, 95% CI: 0.836-0.981), serum HCY level (OR=1.734, 95% CI: 1.458-1.986) and abnormal reproductive history (OR=3.710, 95% CI: 1.217-11.308) were correlated with offspring CHD.CONCLUSIONThere was no correlation between MTHFR 677C/T polymorphism of pregnant women and offspring CHD, but low educational level, low annual household income, abnormal reproductive history, low awareness of eugenics and high serum HCY levels of pregnant women might increase the risk of offspring CHD.

[Correlation between offspring congenital heart disease and MTHFR 677C/T polymorphism and general status of pregnant women].