title: [An association study between gene polymorphism of the key enzyme's folacin metabolism pathway and plasmatic homocysteine levels in fertile woman].
abstract: OBJECTIVE
  The effect of the gene polymorphism for the key enzyme's folacin metabolism pathway on plasmatic homocysteine (Hcy) levels in fertile woman was observed.
  
  
  METHODS
  The subjects were from Shaoxing City, Jiangsu province in 2012, the selection criteria for the women of childbearing age were between 20-45 years old, with an average age of 28.2 (95%CI:27.8-28.6) years old. Sample collection continued uninterrupted lasted seven days, a total of 535 samples were collected, venous blood with EDTA addition or sodium citrate to anticoagulant. After separation, the blood cells and blood plasma were cryopreserved. DNA was extracted using spin column method. All the samples were selected for the gene polymorphism testing of the key enzyme's on folate metabolism and monitoring of plasmatic Hcy level.
  
  
  RESULTS
  Eight single nucleotide polymorphism (SNP) sites of methylenetetrahydrofolate reductase gene (MTHFR) , methionine synthase gene (MS) , synthetic methionine reductase gene (MSR) and cystathionine β synthase gene (CBS) were detected. It was found the genotype AA of the SNP sites-rs1801131 would result higher plasmatic Hcy levels (8.99 µmol/L) than the genotypes CC (7.81 µmol/L) and CA(8.38 µmol/L) (P < 0.01) . Similarly, the genotype TT of the SNP sites-rs1801133 was significantly responded to the increasing of Hcy levels (11.10 µmol/L) than the genotype CC (8.15 µmol/L) and CT (8.45 µmol/L), (P < 0.01) . The two sites of genotype combination of AA-TT could also result in the significant increase of Hcy levels (11.02 µmol/L) than other combined genotypes (genotypes CC-CC, CA-CC, CA-CT, AA-CC, AA-CT), especially the genotype CC-CC. And the risk factor was 1.41 (95CI:1.20-1.66) times over the genotype CC-CC.
  
  
  CONCLUSIONS
  The gene mutations of two SNP sites rs1801131 and rs1801133 in MTHFR would increase Hcy levels.
authors.affiliation: Shaoxing Publicity and Technical Guidance for Family Planning, Shaoxing 312000, China.
authors.forename: Wenfang
authors.initials: W
authors.lastname: Song
authors.forename: Canqing
authors.initials: C
authors.lastname: Ren
authors.forename: Qiuhong
authors.initials: Q
authors.lastname: Shen
authors.forename: Yueming
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Email: LNQ555@126.com.
authors.forename: Nan
authors.initials: N
authors.lastname: Liu
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000328:Adult; D002681:China; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D005492:Folic Acid; D005838:Genotype; D006710:Homocysteine / Q000097:blood* / Q000235:genetics*; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation / Q000502:physiology*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D006710:Homocysteine; D005492:Folic Acid; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase