title: [Correlationship between congenital heart disease and polymorphism of MTHFR gene].
abstract: OBJECTIVE
  To investigate the association between genetic variations in methylenetetrahydrofolate reductase MTHFR and the risk of congenital heart disease.
  
  
  METHODS
  Conducted a case-control study, calculated the sample size by formulas. The sample including 150 isolated CHD cases and 150 controls comparable with the patients in age and sex. They were genotyped for detecting MTHFR C677T, A1298C, G1793A polymorphisms by polymerase chain reaction and restriction fragment length polymorphism analysis (PCR-RFLP) methods.
  
  
  RESULTS
  For the 677, compared with wild CC genotype, heterozygosity CT increased the risk of CHD (OR = 2.249, 95% CI 1.305-3.877, P = 0.003), the homozygous mutant genotype TT was associated with the risk of CHD significantly (OR = 3.121, 95% CI 1.612-6.043, P = 0.001). Compared with the wild allete, mutant allete increased the risk of CHD by 1.813 (95% CI 1.310-2.508, P = 0.000). For the 1298, Compared with wild AA genotype, heterozygosity AC increased the risk of CHD (OR = 2.177, 95% CI 1.183-4.077, P = 0.011). The mutant allete C increased the risk of CHD by 2.017 (95% CI 1.128-3.604, P = 0.016). For the 1793, The proportion of the heterozygote GA and homozygote AA had no statistical differences in the two groups (P = 0.145), also the mutant allete and wild allete (P = 0.158). There were joint effects of MTHFR C677T and MTHFR A1298C, MTHFR A1298C and MTHFR G1793A.
  
  
  CONCLUSIONS
  Genetic polymorphisms in MTHFR C677T and MTHFR A1298C might contribute to the risk of developing CHD, joint effects were found of MTHFR C677T and MTHFR A1298C, MTHFR A1298C and MTHFR G1793A.
authors.forename: Dong
authors.initials: D
authors.lastname: Li
authors.forename: Kunkun
authors.initials: K
authors.lastname: Yu
authors.forename: Yanhui
authors.initials: Y
authors.lastname: Ma
authors.forename: Yizhi
authors.initials: Y
authors.lastname: Liu
authors.forename: Long
authors.initials: L
authors.lastname: Ji
mesh_terms: D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006330:Heart Defects, Congenital / Q000097:blood / Q000235:genetics*; D006331:Heart Diseases / Q000151:congenital* / Q000235:genetics; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)