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 Volume 70, Number 2, January 8, 2008
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Right arrow Cerebral venous thrombosis
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NEUROLOGY 2008;70:129-132
© 2008 American Academy of Neurology

Factor XII C46T gene polymorphism and the risk of cerebral venous thrombosis

K. H. Reuner, MD, E. Jenetzky, MD, A. Aleu, MD, F. Litfin, P. Mellado, MD, M. Kloss, MD, E. Jüttler, MD, A. J. Grau, MD, H. Rickmann, MD, H. Patscheke, MD and C. Lichy, MD

From the Institute for Medical Laboratory Diagnostics, Städtisches Klinikum Karlsruhe, Germany (K.H.R., F.L., H.P.); Institute of Medical Biometry and Informatics, University of Heidelberg, Germany (E. Jenetzky); Department of Neurology, Hospital de Sant Pau, Barcelona, Spain (A.A.); Department of Neurology, Pontificia Universidad Catolica de Chile, Santiago, Chile (P.M.); Department of Neurology, Städtisches Klinikum Ludwigshafen, Germany (A.J.G.); Department of Neurology, Städtisches Klinikum Karlsruhe, Germany (H.R.); and Department of Neurology, University of Heidelberg, Germany (M.K., E. Jüttler, C.L.).

Address correspondence and reprint requests to Dr. Christoph Lichy, Department of Neurology, University of Heidelberg, INF 400, 69120 Heidelberg, Germany christoph_lichy{at}med.uni-heidelberg.de

Background: The TT genotype of a functional factor XII (FXII) C46T gene polymorphism was shown to be a risk factor for peripheral venous thrombosis. We tested whether this genetic variant also increases the risk for cerebral venous thrombosis (CVT).

Methods: We performed a case-control study including 78 consecutive patients with proven CVT and 201 healthy population controls from South Germany. The FXII C46T genotype was assessed using a PCR technique.

Results: The TT genotype of the FXII C46T polymorphism was more common in patients (16.7%) than in controls (5.5%). A strong association of the TT genotype with CVT was found, which was independent of covariables (adjusted odds ratio 4.57; 95% CI 1.55 to 13.41; p = 0.006).

Conclusion: The TT genotype of the functional factor XII C46T gene polymorphism may be a new independent risk factor for cerebral venous thrombosis (CVT). Our finding warrants confirmation in an independent study before this genetic variant should be added to the panel of established risk factors for CVT.

Abbreviations: ATIII = antithrombin III; CVT = cerebral venous thrombosis; FVL = factor V Leiden; FXII = factor XII; OR = odds ratio; PVT = peripheral venous thrombosis.

Disclosure: The authors report no conflicts of interest.

Received August 24, 2006. Accepted in final form June 28, 2007.




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