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Published on: September 9, 2012

Cerebral venous and sinus thrombosis and thrombophilic mutations in Western Iran: association with factor V Leiden

Zohreh Rahimi1, Hadi Mozafari, Amir Hossein Amiri Bigvand

  • 1Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran. zrahimi@kums.ac.ir

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|August 26, 2009
PubMed

Insights

Factor V Leiden mutation is a significant risk factor for cerebral venous and sinus thrombosis (CVST) in Western Iran. This study found a higher prevalence of this genetic mutation in CVST patients compared to controls.

Area of Science:

  • Medical Genetics
  • Thrombosis Research
  • Epidemiology

Background:

  • Cerebral venous and sinus thrombosis (CVST) is a rare but serious condition.
  • Inherited thrombophilias are known risk factors for venous thromboembolism.
  • The prevalence of specific genetic mutations in CVST patients in Western Iran remains understudied.

Purpose of the Study:

  • To investigate the prevalence of factor V Leiden G1691A, prothrombin G20210A, and MTHFR C677T mutations in CVST patients.
  • To determine the association between these genetic mutations and the risk of CVST in a specific Iranian ethnic group.

Main Methods:

  • A case-control study involving 24 CVST patients and 100 healthy controls from Kermanshah Province, Iran.
  • Genotyping for factor V Leiden G1691A, prothrombin G20210A, and MTHFR C677T was performed using the PCR-RFLP method.
  • Statistical analysis included calculating odds ratios and confidence intervals to assess the association between mutations and CVST.

Main Results:

  • Factor V Leiden G1691A was significantly more prevalent in CVST patients (16.7%) than in controls (2%), with an odds ratio of 9.8 (P = .01).
  • No prothrombin G20210A mutations were detected in the patient group.
  • MTHFR C677T showed a higher tendency in patients (58.3%) versus controls (44%), but this difference was not statistically significant (P = .2).

Conclusions:

  • Factor V Leiden G1691A is a significant risk factor for CVST in the studied population of Western Iran.
  • Prothrombin G20210A does not appear to be a risk factor for CVST in this ethnic group.
  • This study provides novel insights into the genetic predisposition of CVST in a homogenous Iranian ethnic cohort.

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