title: 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.
authors.affiliation: Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran. zrahimi@kums.ac.ir
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Rahimi
authors.forename: Hadi
authors.initials: H
authors.lastname: Mozafari
authors.forename: Amir Hossein Amiri
authors.initials: AH
authors.lastname: Bigvand
authors.forename: Reza Mohammad
authors.initials: RM
authors.lastname: Doulabi
authors.forename: Asad
authors.initials: A
authors.lastname: Vaisi-Raygani
authors.forename: Dariush
authors.initials: D
authors.lastname: Afshari
authors.forename: Nazanin
authors.initials: N
authors.lastname: Razazian
authors.forename: Mansour
authors.initials: M
authors.lastname: Rezaei
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D020767:Intracranial Thrombosis / Q000453:epidemiology / Q000235:genetics*; D007492:Iran / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012851:Sinus Thrombosis, Intracranial / Q000453:epidemiology / Q000235:genetics*; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)