title: [Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis].
abstract: OBJECTIVE
  To explore the significance of gene mutation of methylenetetrahydrofolate reductase (MTHFR) C677T, methionine synthase (MS) 2756 AG and cystathionine beta-synthase (CBS) 844ins68 in the development of deep venous thrombosis.
  
  
  METHODS
  One hundred and three cases of deep venous thrombosis (DVT group) and 250 healthy subjects (control group) were recruited in the study. The polymorphisms of MTHFR C677T, MS A2756G and CBS 844ins68 were detected by PCR-restriction fragment length polymorphism(PCR-RFLP).
  
  
  RESULTS
  The prevalences of TT genotypes of MTHFR (C677T) between DVT group and normal control group had significant difference (27.2% vs 17.2%, P< 0.05), the prevalence of AG genotypes of MS A2756G in the DVT group was less than that in the control group (9.7% vs 19.2%, P< 0.05). The prevalence of 677T-2756A haplotype in the DVT group was higher than that in the control group (P< 0.05), the prevalence of 677C-2756A haplotype in the DVT group was less than that in the control group (P< 0.05). There were no significant differences in the prevalences of CBS 844ins68 mutation.
  
  
  CONCLUSIONS
  The homozygote of MTHFR C677T (TT) may be a risk factor of DVT. MS A2756 G(AG) genotypes may reduce the development of DVT. The 677T-2756A haplotype may be a risk factor of DVT. The 677C-2756A haplotype may be a protective factor of DVT. The prevalence of gene mutation of CBS 844ins68 might vary with different ethnic group or geographic regions.
authors.affiliation: Department of Cell Biology and Medical Genetics, College of Basic Medical Sciences, Zhengzhou University, Zhengzhou, Henan, 450052, P. R. China.
authors.forename: Hai-dong
authors.initials: HD
authors.lastname: Yu
authors.forename: Hong
authors.initials: H
authors.lastname: Zheng
authors.forename: Hua
authors.initials: H
authors.lastname: Qi
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: Lian
authors.forename: Ying
authors.initials: Y
authors.lastname: He
authors.forename: Zi-ming
authors.initials: ZM
authors.lastname: Dong
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000328:Adult; D000483:Alleles; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic; D020246:Venous Thrombosis / Q000201:enzymology / Q000235:genetics*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase