Association of the protein C promoter CG haplotype and the factor II G20210A mutation is a risk factor for cerebral venous thrombosis.

The factor II G20210A mutation and estrogen treatment are described as risk factors for cerebral venous thrombosis (CVT). We evaluated these known risk factors in a population of CVT patients and investigated the role of a combination of two polymorphisms in the promoter of the protein C gene (PC promoter CG haplotype), newly described as risk factors for deep venous thrombosis. A retrospective population of 26 CVT patients was compared with a control group of 84 healthy volunteers. After a multivariate analysis, we confirmed that the factor II G20210A mutation is an independent risk factor for CVT with odds ratio = 14.7 (95% confidence interval, 2.83 - 75.3). We demonstrated that the CVT risk is increased when this mutation is associated either with the PC promoter CG haplotype (odds ratio = 19.8; 95% confidence interval, 2.1-186.5) or, in females, with an estrogen treatment (odds ratio = 24; 95% confidence interval, 2.26-127.3). In this work, the association of the factor II G2021 OA mutation and the PC promoter CG haplotype or estrogen treatment seems to be a particular risk for CVT.