Abstract
PurposeCongenital heart diseases (CHD) are among the most common birth defects in China. Environmental causes and folate metabolism changes may alter susceptibility to CHD. The aim of this study is to evaluate the relevant risk-factors of children with CHD and their mothers.Methods138 children with CHD and 207 normal children for controls were recruited. Their mothers were also enlisted in this study and interviewed following a questionnaire about their pregnant history and early pregnancy situation. Five single nucleotide polymorphisms (SNPs) in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS) and cystathionine β-synthase (CBS) of mothers and children were genotyped.ResultsThere were significant differences in the gender of children, occupation of mothers, family history with CHD, history of abortion, history of adverse pregnancy, early pregnancy health, fetus during pregnancy, pesticide exposure and drug exposure in CHD group and control group ( P < 0.05). Logistic regression analyses showed that after adjustment for above factors, MTHFR rs1801131 were significantly associated with their offspring CHD risk in mothers. Compared with the mothers whose MTHFR were rs1801131 AA and AC genotypes, the mothers who got a mutation of MTHFR rs1801131 CC genotypes had a 267% increase in risk of given birth of a CHD children (OR=3.67,95%CI=1.12-12.05). Meanwhile, MTHFR rs1801131 were significantly associated with CHD susceptibility in children (OR = 1.42, 95% CI = 1.00-2.44 in additive model).ConclusionsBesides mothers’ social and fertility characteristics, our results suggested that the genetic variants in folate metabolism pathway might be one of the most related risk-factors of CHD. MTHFR rs1801131 were identified as loci in Chinese population that were involved in CHD.
Highlights
Congenital heart diseases (CHDs) have been the highest incidence of birth defects and increased yearly in China since 2005
Logistic regression analyses showed that after adjustment for above factors, methylenetetrahydrofolate reductase (MTHFR) rs1801131 were significantly associated with their offspring CHD risk in mothers
Compared with the mothers whose MTHFR were rs1801131 AA and AC genotypes, the mothers who got a mutation of MTHFR rs1801131 CC genotypes had a 267% increase in risk of given birth of a CHD children (OR=3.67,95%confidential intervals (CIs)=1.12-12.05)
Summary
Congenital heart diseases (CHDs) have been the highest incidence of birth defects and increased yearly in China since 2005. It affected 43.22 per 10 thousand live births in 2013 [1]. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHDs. there are plenty studies on SNPs of the genes involved in the folate metabolism pathway, especially the 3 major enzymes including methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS) and cystathionine β-synthase (CBS). There are plenty studies on SNPs of the genes involved in the folate metabolism pathway, especially the 3 major enzymes including methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS) and cystathionine β-synthase (CBS) These studies brought about controversial results [5,6,7,8]. The polymorphisms rs1801131 and rs1801133 in MTHFR gene, rs1805087 in MS gene and rs2124459, rs2850144 in CBS gene were detected in children with CHD and their mothers and compared with which of the control group in Jiangsu Province, China
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