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

Abstract
The present study aimed at investigating the prevalence of factor V Leiden G1691A, prothrombin G20210A, and MTHFR C677T in cerebral venous and sinus thrombosis (CVST) patients and their possible association with CVST in Western Iran. A total of 24 CVST patients with the mean age of 37.1 +/- 11.7 years and 100 sex- and age-matched healthy individuals from Kermanshah Province of Iran with ethnic background of Kurd were studied for factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T by PCR-RFLP method using Mnl I, Hind III, and Hinf I restriction enzymes, respectively. Prevalence of factor V Leiden was 16.7% in patients and 2% in control group. A significant association was found between factor V Leiden mutation and CVST with odds ratio (OR) of 9.8 (95% confidence intervals [CI] 1.68-57.2, P = .01). No prothrombin G20210A was found among patients. In patients, MTHFR C677T tended to be higher (58.3%) compared to control (44%), OR of 1.8 (95% CI 0.73-4.5, P = .2). Our study for the first time has determined the prevalence of inherited thrombophilia in a homogenous ethnic group of CVST patients and suggests that factor V Leiden, and not the prothrombin gene mutation is a risk factor for CVST in Western Iran.
AuthorsZohreh Rahimi, Hadi Mozafari, Amir Hossein Amiri Bigvand, Reza Mohammad Doulabi, Asad Vaisi-Raygani, Dariush Afshari, Nazanin Razazian, Mansour Rezaei
JournalClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis (Clin Appl Thromb Hemost) Vol. 16 Issue 4 Pg. 430-4 (Aug 2010) ISSN: 1938-2723 [Electronic] United States
PMID19703820 (Publication Type: Journal Article)
Chemical References
  • factor V Leiden
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)
Topics
  • Adult
  • Factor V (genetics)
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Intracranial Thrombosis (epidemiology, genetics)
  • Iran (epidemiology)
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) (genetics)
  • Mutation
  • Prevalence
  • Prothrombin (genetics)
  • Sinus Thrombosis, Intracranial (epidemiology, genetics)
  • Thrombophilia (epidemiology, genetics)

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