Naslov
Croatian population data for the C677T polymorphism in methylenetetrahydrofolate reductase: frequencies in healthy and atherosclerotic study groups

Autori
Žuntar, Irena ; Topić, Elizabeta ; Vukosavić, Đuro ; Vuković, Vlasta ; Demarin, Vida ; Begonja, Antonija ; Antoljak, Nataša ; Šimundić, Ana Maria

Izvornik
Clinica chimica acta (0009-8981) 335 (2003), 1/2; 95-100

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
methylenetetrahydrofolate reductase ; plymorhism ; atherosclerosis

Sažetak
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. The C6775 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=247) 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). 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 were 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. The preliminary study of MTHFR polymophism 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 shaw significantly higher frequency of MTHFR mutation in CAD and CS studied groups.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA