title: [Genetic polymorphisms of homocysteine metabolism related enzymes in patients with coronary heart disease].
abstract: OBJECTIVE
  To study genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T and cystathionine beta-synthase(CBS) T833C related to homocysteine metabolism in patients with coronary heart disease (CHD).
  
  
  METHODS
  209 patients with CHD and 101 controls were selected. MTHFR genetic C677T polymorphism was determined by PCR-RFLP, and CBS T833C polymorphism by ARMS method. Plasma homocysteine levels were detected with HPLC.
  
  
  RESULTS
  The frequencies of MTHFR T homogenetic type and heterogenetic type (27.8% and 45.4%) in case group were higher than those in normal group(22.8% and 34.6%). There were significant differences in the frequencies of genotypes and alleles between two groups (P < 0.05). C homogenotype of CBS gene was found in 21 patients, and 2 in the normal group. There were evident differences in the frequencies of genotypes and alleles of the two groups (P < 0.001). Moreover, plama homocysteine levels were markedly higher in patients with MTHFR or CBS genetic mutation than those in patients without mutation (P < 0.05).
  
  
  CONCLUSIONS
  Hyperhomocysteinemia is an independent risk factor of CHD. MTHFR and CBS are the main enzymes related to homocysteine metabolism. Their genetic mutations are possibly important mechanism of hyperhomocysteinemia and coronary heart disease.
authors.affiliation: Division of Coronary Heart Disease, Fu Wai Cardiovascular Hospital, CAMS & PUMC, Beijing 100037.
authors.forename: H
authors.initials: H
authors.lastname: Xu
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: J
authors.initials: J
authors.lastname: Tang
mesh_terms: D000328:Adult; D003327:Coronary Disease / Q000201:enzymology*; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase