title: C677T methylene-tetrahydrofolate reductase mutation in type 2 diabetic patients with and without hyperhomocysteinaemia.
abstract: OBJECTIVE
  The aim of the study was to determine the prevalence of the C677T mutation in a cohort of type 2 diabetic patients with and without elevated total plasma homocysteine (tHcy).
  
  
  METHODS
  80 type 2 diabetic patients with hyperhomocysteinaemia (group 1, tHcy: 21.3 +/- 6.7 micromol/L) and 50 subjects with normal levels (group 2, tHcy 11.2 +/- 2.3 micromol/L) were studied. C677T mutation was assessed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  
  
  RESULTS
  Homozygosity was present in 23% of patients in group 1 and 8% in group 2 (P<0.02). No significant difference in heterozygosity frequency was observed between patients with and without hyperhomocysteinaemia. T allele frequency was 0.43 in group 1 and 0.35 in group 2.
  
  
  CONCLUSIONS
  C677T mutation is frequent in diabetic patients with hyperhomocysteinaemia and could contribute, besides non genetic factors, to increased levels of tHcy.
authors.affiliation: Department of Endocrinology and Nutrition, Cliniques universitaires St Luc, université catholique de Louvain, Brussels, Belgium. buysschaert@diab.ucl.ac.be
authors.forename: M
authors.initials: M
authors.lastname: Buysschaert
authors.forename: J L
authors.initials: JL
authors.lastname: Gala
authors.forename: A
authors.initials: A
authors.lastname: Bessomo
authors.forename: M P
authors.initials: MP
authors.lastname: Hermans
mesh_terms: D000368:Aged; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000235:genetics*; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D012016:Reference Values
chemical_list: D007004:Hypoglycemic Agents; D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)