title: Factor V Arg506-->Gln mutation in patients with antiphospholipid antibodies.
abstract: Antiphospholipid antibodies (APA) have thought to be implicated in the pathogenesis of both arterial and venous thrombosis. Because of heterogeneity of APA, direct evidence of their involvement in a thrombotic event is not yet available. Development of thrombosis in the antiphospholipid antibody syndrome (APS) may occur because of the presence of additional risk factors. Here we have analysed 60 patients with APA for the presence of the Arg506-->Gln mutation in factor V. Among them 26 suffered from deep venous thrombosis, 13 from arterial thrombosis and 21 had no history of arterial or venous thrombosis. In the first group four patients were found to be heterozygous and one homozygous for the factor V Arg506-->Gln mutation. None of the patients with the factor V mutation was found in the second and third group. The incidence of factor V mutation was significantly elevated in the group of patients with venous thrombosis. These data suggest that in patients with antiphospholipid antibodies the factor V Arg506-->Gln mutation may play a major role in the occurrence of venous thrombosis.
authors.affiliation: Department of Medicine and Experimental Oncology, University of Turin, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Montaruli
authors.forename: A
authors.initials: A
authors.lastname: Borchiellini
authors.forename: G
authors.initials: G
authors.lastname: Tamponi
authors.forename: L
authors.initials: L
authors.lastname: Giorda
authors.forename: P
authors.initials: P
authors.lastname: Bessone
authors.forename: J A
authors.initials: JA
authors.lastname: van Mourik
authors.forename: J
authors.initials: J
authors.lastname: Voorberg
authors.forename: P
authors.initials: P
authors.lastname: Schinco
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016736:Antiphospholipid Syndrome / Q000150:complications*; D001157:Arterial Occlusive Diseases / Q000453:epidemiology / Q000209:etiology; D001327:Autoimmune Diseases / Q000150:complications*; D004252:DNA Mutational Analysis; D004198:Disease Susceptibility; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000032:analysis; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D013924:Thrombophlebitis / Q000453:epidemiology / Q000209:etiology; D013927:Thrombosis / Q000453:epidemiology / Q000209:etiology*
chemical_list: D016682:Lupus Coagulation Inhibitor; C095381:factor V Leiden; D005165:Factor V