title: Association of the protein C promoter CG haplotype and the factor II G20210A mutation is a risk factor for cerebral venous thrombosis.
abstract: 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 4.7 (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 G20210A mutation and the PC promoter CG haplotype or estrogen treatment seems to be a particular risk for CVT.
authors.affiliation: Hemostasis Unit, UFR Medecine-Pharmacy, Rouen, France. veronoique.Le-Cam-Duchez@chu-rouen.fr
authors.forename: Véronique
authors.initials: V
authors.lastname: Le Cam-Duchez
authors.forename: Aude
authors.initials: A
authors.lastname: Bagan-Triquenot
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Ménard
authors.forename: Bruno
authors.initials: B
authors.lastname: Mihout
authors.forename: Jeanne-Yvonne
authors.initials: JY
authors.lastname: Borg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D020767:Intracranial Thrombosis / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D009154:Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011486:Protein C / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D011486:Protein C; D011516:Prothrombin