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Clinical and Applied Thrombosis/Hemostasis
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Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis

Emel Ozyurek

Institute of Child Health and Section of Pediatric Hematology, Hacettepe University, Ankara, Turkey

Gunay Balta

Institute of Child Health and Section of Pediatric Hematology, Hacettepe University, Ankara, Turkey

Aydan Degerliyurt

Section of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

Hülya Parlak

Institute of Child Health and Section of Pediatric Hematology, Hacettepe University, Ankara, Turkey

Sabiha Aysun

Section of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

Aytemiz Gürgey

Institute of Child Health and Section of Pediatric Hematology, Hacettepe University, Ankara, Turkey, agurgey{at}hacettepe.edu.tr

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.

Key Words: Cerebral thrombosis • Childhood • Genetic risk factors.

Clinical and Applied Thrombosis/Hemostasis, Vol. 13, No. 2, 154-160 (2007)
DOI: 10.1177/1076029606298988


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