title: A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population.
abstract: Congenital heart defects (CHDs) are the most common  birth defects; genes involved in homocysteine/folate metabolism may play  important roles in CHDs. Methionine synthase reductase (MTRR) is one of  the key regulatory enzymes involved in the metabolic pathway of homocysteine.  We investigated whether two polymorphisms (A66G and C524T) of the MTRR gene  are associated with CHDs. A total of 599 children with CHDs and 672 healthy  children were included; the polymorphisms were detected by PCR and RFLP  analysis. Significant differences in the distributions of A66G and C524T  alleles were observed between CHD cases and controls, and slightly increased  risks of CHD were associated with 66GG and 524CT genotypes (odds ratios = 1.545  and 1.419, respectively). The genotype frequencies of 524CT in the VSD  subgroup, 66GG and 524CT in the PDA subgroup were significantly different from  those of controls. In addition, the combined 66AA/524CT, 66AG/524CT and  66GG/524CT in CHDs had odds ratios = 1.589, 1.422 and 1.934, respectively.  Increased risks were also observed in 66AA/524CT and 66GG/524CT for ASD, 66AG/524CT  for VSD, as well as 66GG/524CT for PDA. In conclusion, MTRR A66G and  C524T polymorphisms are associated with increased risk of CHDs.
authors: The Laboratory of Early Development and Injuries, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
authors: W
authors: W
authors: Zeng
authors: L
authors: L
authors: Liu
authors: Y
authors: Y
authors: Tong
authors: H M
authors: HM
authors: Liu
authors: L
authors: L
authors: Dai
authors: M
authors: M
authors: Mao
mesh_terms: D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006330:Heart Defects, Congenital / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase