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Effect of prothrombin 19911 A>G polymorphism on the risk of cerebral sinus‐venous thrombosis
Authors:I Martinelli  P Bucciarelli  V De Stefano  S M Passamonti  M Menegatti  D Tormene  A Tosetto  P M Mannucci
Institution:1. A. Bianchi Bonomi Haemophilia and Thrombosis Center, Department of Internal Medicine and Medical Specialties, Fondazione IRCCS Ca’ Granda ‐ Ospedale Maggiore Policlinico, University of Milan, Milan;2. Institute of Hematology, Catholic University of Rome, Rome;3. Department of Medical and Surgical Sciences, University of Padua, Padua;4. Hematology Department, S. Bortolo Hospital, Vicenza, Italy
Abstract:Background and Purpose: The A>G polymorphism at position 19911 of the prothrombin gene is associated with a mildly increased risk of venous thromboembolism, alone or in association with such common thrombophilia mutations as factor V Leiden and prothrombin 20210 GA. Its role in cerebral sinus‐venous thrombosis (CSVT) is not known. Methods: The presence of prothrombin 19911 A>G was investigated in a case–control study of 107 patients with cerebral thrombosis and factor V Leiden (n = 25), prothrombin 20210 GA (n = 47), without known thrombophilia (n = 35) and 842 healthy individuals with the corresponding coagulation profile. Results: Prothrombin 19911 A>G did not increase the risk of CSVT in carriers of factor V Leiden (adjusted odds ratio 1.6, 95%CI 0.6–4.7), prothrombin 20210 GA (odds ratio 1.1, 95%CI 0.6–2.2), nor in patients without known thrombophilia (odds ratio 1.3, 95%CI 0.5–3.1). Conclusions: Prothrombin 19911 A>G polymorphism does not appear to be a risk factor for CSVT, alone or in association with factor V Leiden or prothrombin 20210GA.
Keywords:cerebral vein thrombosis  factor V Leiden  prothrombin mutation  risk factors  thrombophilia
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