title: [Association of folate metabolism genes MTRR and MTHFR with complex congenital abnormalities among Chinese population in Shanxi Province, China].
abstract: OBJECTIVE
  To explore the association of polymorphisms in folate metabolism genes, methionine synthase reductase (MTRR) gene and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with complex congenital abnormalities and to further investigate its association with complex congenital abnormalities derived from three germ layers.
  
  
  METHODS
  A total of 250 cases of birth defects (with complex congenital abnormalities including congenital heart disease, neural tube defects, and craniofacial anomalies) in Shanxi Province, China were included in the study. MTRR single nucleotide polymorphism (SNP) (rs1801394) and MTHFR SNP (rs1801133) were genotyped by the SNaPshot method, and the genotyping results were compared with those of controls (n=420).
  
  
  RESULTS
  SNPs rs1801394 and rs1801133 were associated with multiple birth defects. For the recessive model, individuals with GG genotype at rs1801394 and CC genotype at rs1801133 had a relatively low risk of developing birth defects, so the two genotypes were protective factors against birth defects. The homozygous recessive genotype at rs1801133, which served as a protective factor, was associated with ectoderm- or endoderm-derived complex congenital abnormalities, while the homozygous recessive genotype at rs1801394, which served as a protective factor, was associated with ectoderm-, mesoderm- or endoderm-derived complex congenital abnormalities.
  
  
  CONCLUSIONS
  Among the Chinese population in Shanxi Province, the SNPs in folate metabolism genes (MTRR and MTHFR) are associated with complex congenital abnormalities and related to ectoderm, mesoderm or endoderm development.
authors.affiliation: Beijing Municipal Key Laboratory of Child Development Nutrigenomics, Capital Institute of Pediatrics, Beijing 100020, China. lihuili2011@gmail.com.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.forename: Bao-Ling
authors.initials: BL
authors.lastname: Bai
authors.forename: Xiao-Zhen
authors.initials: XZ
authors.lastname: Liu
authors.forename: Chun-Yue
authors.initials: CY
authors.lastname: Miao
authors.forename: Hui-Li
authors.initials: HL
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D000013:Congenital Abnormalities / Q000235:genetics*; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D005838:Genotype; D005855:Germ Layers / Q000196:embryology; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)