title: Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases.
abstract: BACKGROUND
  To investigate whether the cytosine-to-thymine mutation at base 677 of the gene for methylenetetrahydrofolate reductase (MTHFR) is associated with congenital heart diseases (CHD), using high throughput heteroduplex analysis based upon the powerful technique of denaturing high-performance liquid chromatography.
  
  
  METHODS
  We investigated the MTHFR genotype of a cytosine-to-thymine mutation at base 677 for 213 patients of CHDs as confirmed by cardiac catheterization and also for 195 healthy controls.
  
  
  RESULTS
  The overall genotype frequencies of the MTHFR C677T polymorphism were not significantly different between the CHD patients and the healthy control (P = 0.345). Furthermore, taking various subgroups of CHD patients into consideration, we noted a significantly increased proportion of homozygous TT genotypes for patients suffering from valvular pulmonary stenosis (PS) or pulmonary atresia with an intact ventricular septum (PA + IVS) (p = 0.0005). For patients revealing heterotaxy syndrome, a conotruncal anomaly including tetralogy of Fallot, an interruption of the aortic arch, persistent truncus arteriosus, and aortopulmonary window, no statistically significant difference existed.
  
  
  CONCLUSIONS
  The discrepancy in the distribution of MTHFR genotypes amongst various subtypes of CHD reflects some heterogeneity in the developmental mechanism of CHD. The increased percentage of homozygous TT genotypes might contribute to the pathogenesis of valvular PS and PA + IVS.
authors.affiliation: Department of Obstetrics and Gynecology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan.
authors.forename: Chien-Nan
authors.initials: CN
authors.lastname: Lee
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Wen-Fang
authors.initials: WF
authors.lastname: Cheng
authors.forename: Ming-Tai
authors.initials: MT
authors.lastname: Lin
authors.forename: Jou-Kou
authors.initials: JK
authors.lastname: Wang
authors.forename: Mei-Hwan
authors.initials: MH
authors.lastname: Wu
authors.forename: Fon-Jou
authors.initials: FJ
authors.lastname: Hsieh
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers; D005312:Fetal Blood; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: D017931:DNA Primers; D042965:Methylenetetrahydrofolate Reductase (NADPH2)