title: MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population.
abstract: OBJECTIVE
  To investigate whether genetic variants in methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD) genes are associated with risk of congenital cardiac disease.
  
  
  BACKGROUND
  Accumulative evidence suggests that hyperhomocysteinaemia is associated with risk of congenital cardiac disease. Inherited polymorphisms in key folate metabolic pathway genes, MTHFR and MTHFD, may influence the efficiency of folate metabolism and plasma level of homocysteine.
  
  
  METHODS
  A two-stage case-control study of congenital cardiac disease was conducted by genotyping MTHFR c.1793G>A and four other variants - MTHFR c.677C>T, c.1298A>C, and MTHFD c.1958G>A, c.401C>T - in a Chinese population consisting of 1033 congenital cardiac disease patients and 1067 non-congenital cardiac disease patients.
  
  
  RESULTS
  The variant genotypes of MTHFR c.1793GA/AA were associated with a significantly decreased risk of congenital cardiac disease in two stages combined, with an adjusted odds ratio of 0.67 and a 95% confidence interval of 0.54-0.84 (p = 0.0004). In comparison with wild-type homozygote c.1793GG, the effect was significant in isolated perimembranous ventricular septal defect patients with an adjusted odds ratio of 0.60 and a 95% confidence interval of 0.43-0.83 (p = 0.0003).
  
  
  CONCLUSIONS
  These findings indicate that MTHFR c.1793G>A may have a role in susceptibility to sporadic congenital cardiac disease.
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China.
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.forename: Xiaohan
authors.initials: X
authors.lastname: Xu
authors.forename: Lei
authors.initials: L
authors.lastname: Xue
authors.forename: Xiang
authors.initials: X
authors.lastname: Liu
authors.forename: Haiyong
authors.initials: H
authors.lastname: Gu
authors.forename: Hailong
authors.initials: H
authors.lastname: Cao
authors.forename: Wanshan
authors.initials: W
authors.lastname: Qiu
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.forename: Yijiang
authors.initials: Y
authors.lastname: Chen
mesh_terms: D002648:Child; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)