The 46C/T Polymorphism of Coagulation Factor XII in Healthy Korean Population and in Patients with Ischemic Cerebrovascular Disease / 대한진단검사의학회지

ABSTRACT

BACKGROUND: In Orientals, the levels of the plasma coagulation factor XII (FXII) were only half of those in Caucasians. Recently, nucleotide polymorphism of the 46C to T substitution in the 5'-untranslated region was reported and this led to lower levels in plasma FXII. Some inherited FXII deficiencies were reported to show thromboembolic predisposition. We investigated the interaction of this polymorphism with FXII activity and the association of this polymorphism among ischemic cerebrovascular disease (CVD) patients among Koreans. METHODS: Blood was obtained from 334 healthy Korean adults and 163 patients. We measured FXII activities by the aPTT method. Molecular analysis using the allele-specific restriction with endonuclease Hga I was performed. RESULTS: Genotype frequencies of our controls were 7.8%, 47.3%, and 44.9% for C/C, C/T, and T/T. There were no significant differences in genotype frequencies between the controls and the patients (P=0.800). FXII activities of our controls were strongly dependent on the genotype C/C, 129.4%; C/T, 92.4%; T/T, 50.2% (P60 years old), the prevalence of the T/T genotype increased significantly in the old-age category of patients (P=0.046). CONCLUSIONS: Koreans had a 69% frequency of T alleles with low levels of FXII activity. We could not prove any association between this polymorphism and ischemic CVD, but the prevalence of the T/T genotype in old-age patients was significantly higher than in the age-matched controls. This finding suggests that the 46C/T polymorphism of FXII might have an influence on the morbidity of ischemic CVD in the old-age group.