title: Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease.
abstract: OBJECTIVE
  Congenital 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.
  
  
  METHODS
  138 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.
  
  
  RESULTS
  There 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).
  
  
  CONCLUSIONS
  Besides 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.
authors.affiliation: Jiangsu Institute of Planned Parenthood Research, Nanjing, Jiangsu, 210036, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Shi
authors.affiliation: Department of Cardiology, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, 210008, China.
authors.forename: Shiwei
authors.initials: S
authors.lastname: Yang
authors.affiliation: Jiangsu Institute of Planned Parenthood Research, Nanjing, Jiangsu, 210036, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Huang
authors.affiliation: Jiangsu Institute of Planned Parenthood Research, Nanjing, Jiangsu, 210036, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Lin
authors.affiliation: Jiangsu Institute of Planned Parenthood Research, Nanjing, Jiangsu, 210036, China.
authors.forename: Xiaoru
authors.initials: X
authors.lastname: Sun
authors.affiliation: Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Rongbin
authors.initials: R
authors.lastname: Yu
authors.affiliation: Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Cardiology, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, 210008, China.
authors.forename: Yuming
authors.initials: Y
authors.lastname: Qin
authors.affiliation: Jiangsu Institute of Planned Parenthood Research, Nanjing, Jiangsu, 210036, China.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Wang
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000328:Adult; D002648:Child; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004781:Environmental Exposure; D005260:Female; D005492:Folic Acid / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital / Q000453:epidemiology*; D006801:Humans; D016015:Logistic Models; D008297:Male; D053858:Metabolic Networks and Pathways / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase