ABSTRACT
The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in development of childhood cerebral thrombosis (CT). A total of 113 Turkish children with CT were studied and compared with the control group. The carrier frequency of the factor V G1691A mutation was found to be significantly higher in the patient group (17.7%) than controls (7.4%). The presence of this genotype was associated with a 2.7-fold increased risk of developing CT (95% confidence interval [CI], 1.0-7.0). The prevalence of prothrombin G20210A mutation in 110 patients (4.5%) was insignificantly higher than controls (2.3%) (odds ratio, 2.0; 95% CI, 0.4-10.7). A statistically significant increase in the frequency of homozygous MTHFR C677T genotype was observed in 62 patients (11.3%) compared to controls (4.3%), and this genotype was associated with 2.8-fold increased CT risk (95% CI, 1.0-8.0). The incidence of PAI-1 4G/4G genotype in 65 patients (21.5%) was slightly lower than that of controls (26.0%), but the differences did not reach statistical significance (odds ratio, 0.8; 95% CI, 0.4-1.5). The results of this study suggested that factor V G1691A and MTHFR C677T genotypes may be associated with an increased risk of developing CT in Turkish children.
Subject(s)
Factor V/genetics , Intracranial Thrombosis/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Plasminogen Activator Inhibitor 1/genetics , Prothrombin/genetics , Adolescent , Child , Child, Preschool , Female , Genotype , Humans , Infant , Infant, Newborn , Intracranial Thrombosis/pathology , Male , Mutation/genetics , Risk FactorsABSTRACT
Activated protein C (APC) resistance has been found to be an important cause of venous thrombosis. The prevalence of F V Leiden (FVL) in general population is variable according to the region and the ethnic group. The aim of this study was to determine the prevalence of APC resistance and FVL in healthy population in Edirne as a representative sample of province of Edirne. Total 467 healthy subjects were studied. There were 238 males (50.96%) and 229 females (49.04%). APC resistance was studied by functional and DNA methods. There were a total 22/476 subjects (4.7%) were APC resistance. There were 20/476 subjects (4.28%) who had FVL by DNA test. Of these, there were 18 heterozygous and 2 homozygous FVL and other two subjects have no FVL mutation but have the high levels of FVIII to explain acquired APC resistance. The coexistence of FVL and the deficiencies of protein C (1/22), protein S (2/22) and antithrombin (1/22) were also studied. No one of subjects had prothrombin gene mutation. The data showed that the prevalence of APC resitance and FVL in healthy Turkish population were similar to the previously reported publications in Turkey and Europe. One thing is a keeping in mind to be the coexistence of FVL and the other known thrombophilic risk factors.
