title: Croatian population data for the C677T polymorphism in methylenetetrahydrofolate reductase: frequencies in healthy and atherosclerotic study groups.
abstract: BACKGROUND
  The aim of this study was to investigate the frequency of C677T methylenetetrahydrofolate reductase (MTHFR) mutation in healthy Croatian volunteers and in patients with atherosclerosis.
  
  
  METHODS
  The C677T MTHFR gene mutation was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 640 subjects, residents of the Zagreb city or Zagreb surroundings. Control group (n=298) was healthy blood donors. Patients (n=342) were divided into two groups of those with coronary heart disease, CAD (n=247) and those with >60% carotid stenosis, CS (n=95).
  
  
  RESULTS
  CC genotype was recorded in 45% of healthy volunteers and 46% of patients (46.3% with CS and 46.2% with CAD). TC genotype was found in 49% of healthy volunteers and 45% of patients (46.3% with CS and 44.9% with CAD). There was no significant difference (p>0.05) from the control group in the genotype or allele frequency either for the overall group of patients with atherosclerosis or for the patient subgroups.
  
  
  CONCLUSIONS
  The preliminary study of MTHFR polymorphism in control subjects and cardiovascular disease/carotid stenosis patients revealed that in Croats there was a low frequency of TT genotype (6% in controls vs. 9% in patients) and T allele (31% for cases and controls). Additionally, our results did not show significantly higher frequency of MTHFR mutation in CAD and CS studied groups.
authors.affiliation: Faculty of Pharmacy and Biochemistry, University of Zagreb, A. Kovacića 1, 10 000 Zagreb, Croatia. izuntar@pharma.hr
authors.forename: Irena
authors.initials: I
authors.lastname: Zuntar
authors.forename: Elizabeta
authors.initials: E
authors.lastname: Topić
authors.forename: Duro
authors.initials: D
authors.lastname: Vukosavić
authors.forename: Vlasta
authors.initials: V
authors.lastname: Vuković
authors.forename: Vida
authors.initials: V
authors.lastname: Demarin
authors.forename: Antonija
authors.initials: A
authors.lastname: Begonja
authors.forename: Natasa
authors.initials: N
authors.lastname: Antoljak
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Simundić
mesh_terms: D000328:Adult; D000368:Aged; D001161:Arteriosclerosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D017523:Croatia; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)