title: Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively proven pulmonary embolism.
abstract: Deep vein thrombosis (DVT) and pulmonary embolism (PE) are considered to be two forms of the same disease, however it is not fully understood what determines their clinical presentation. Proteins encoded by the FXIIIA and TAFI genes are involved in stabilizing the fibrin clot and in making it more lysis resistant. The FXIIIA 34Leu and TAFI -438A alleles might protect against DVT. Information on such an association with PE is either contradictory or missing. We hypothesized that both polymorphisms might influence the formation and fate of emboli and accordingly the risk of PE. We determined the frequencies of both polymorphisms in patients with objectively demonstrated PE. The frequency of FXIIIA Leu34Leu in PE patients and non-PE patients was 4.5% and 8.8%, [OR 0.5 (95% CI: 0.1 to 1.9)], respectively. For -438 A/A TAFI genotype the frequency was 1.5% and 8.1% [OR 0.1 (95% CI: 0.02 to 1.1)], respectively.
authors.affiliation: Department of General Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Majida
authors.initials: M
authors.lastname: Zidane
authors.forename: Marieke C H
authors.initials: MC
authors.lastname: de Visser
authors.forename: Marije
authors.initials: M
authors.lastname: ten Wolde
authors.forename: Hans L
authors.initials: HL
authors.lastname: Vos
authors.forename: Wouter
authors.initials: W
authors.lastname: de Monyé
authors.forename: Rogier M
authors.initials: RM
authors.lastname: Bertina
authors.forename: Menno V
authors.initials: MV
authors.lastname: Huisman
mesh_terms: D000328:Adult; D000368:Aged; D025901:Carboxypeptidase B2 / Q000235:genetics* / Q000502:physiology; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005176:Factor XIII / Q000235:genetics* / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000502:physiology; D016017:Odds Ratio; D017354:Point Mutation / Q000502:physiology; D011110:Polymorphism, Genetic / Q000502:physiology*; D011655:Pulmonary Embolism / Q000097:blood / Q000209:etiology / Q000235:genetics*; D020246:Venous Thrombosis
chemical_list: D005176:Factor XIII; D025901:Carboxypeptidase B2