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Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis

Emel Ozyurek1, Gunay Balta, Aydan Degerliyurt

  • 1Institute of Child Health and Section of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|April 26, 2007
PubMed

Insights

Certain genetic factors, including factor V G1691A and methylenetetrahydrofolate reductase C677T, appear to increase the risk of childhood cerebral thrombosis (CT) in Turkish children. These genetic predispositions warrant further investigation for potential early detection and intervention strategies.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Childhood cerebral thrombosis (CT) is a serious condition with multifactorial causes.
  • Genetic predispositions are increasingly recognized as contributing factors in thrombotic events.

Purpose of the Study:

  • To investigate the association between specific genetic mutations and the risk of developing childhood cerebral thrombosis (CT) in a Turkish population.
  • To evaluate the roles of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in CT development.

Main Methods:

  • A case-control study involving 113 Turkish children diagnosed with CT and a control group.
  • Genotyping was performed for FV G1691A, prothrombin G20210A, MTHFR C677T, and PAI-1 4G/5G mutations.

Main Results:

  • The carrier frequency of the factor V G1691A mutation was significantly higher in CT patients (17.7%) versus controls (7.4%), indicating a 2.7-fold increased risk.
  • A statistically significant increase in the homozygous MTHFR C677T genotype was observed in patients (11.3%) compared to controls (4.3%), associated with a 2.8-fold increased CT risk.
  • The prothrombin G20210A and PAI-1 4G/5G genotypes did not show a statistically significant association with CT risk in this cohort.

Conclusions:

  • Factor V G1691A and MTHFR C677T genotypes are likely associated with an elevated risk of childhood cerebral thrombosis (CT) in Turkish children.
  • These genetic factors may play a significant role in the pathogenesis of CT, suggesting potential targets for risk assessment.

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