title: Thrombophilic mutations in high-risk atrial fibrillation patients: high prevalence of prothrombin gene G20210A polymorphism and lack of correlation with thromboembolism.
abstract: Atrial fibrillation (AF) is a common arrhythmia that results in a high risk of cerebral and peripheral embolism. Factor V Leiden and factor II G20210A variant are two leading conditions for venous thrombosis. The aim of our study was to find out whether these two common prothrombotic mutations play a role in the occurrence of embolic events in AF patients. We investigated 336 non-valvular AF patients and 336 healthy control subjects. Factor II G20210A variant was found in 24/336 patients (7.14%) and in 11/336 of control subjects (3.3%). At a multivariate analysis, factor II G20210A variant was independently associated to AF (OR 2.4 95% CI 1.1-5.2; p<0.05). No significant difference was observed in the prevalence of factor V Leiden in the two groups investigated [6/304 (2.0%) in patients vs 13/336 (3.9%) in controls (p=0.24)]. AF patients were separately analyzed in relation to the occurrence or absence of a cerebral or peripheral embolic event (200 with and 136 without embolic event). The prevalence of the two mutations among AF patients with and without an embolic event was similar [factor II G20210A polymorphism (7% and 7.3% respectively) and factor V Leiden (1.2% and 2.9%, respectively)]. No differences were found in relation to the type of embolic event. Our results suggest a possible relationship between the presence of prothrombin gene variant and AF per se.
authors.affiliation: Dipartmento di Area Critica Medico Chirurgica, Centro Trombosi, Azienda Ospedaliera Careggi V.le Morgagni 85, 50134 Florence, Italy. polida@ao-careggi.toscana.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Poli
authors.forename: Emilia
authors.initials: E
authors.lastname: Antonucci
authors.forename: Emanuele
authors.initials: E
authors.lastname: Cecchi
authors.forename: Irene
authors.initials: I
authors.lastname: Betti
authors.forename: Lelia
authors.initials: L
authors.lastname: Valdrè
authors.forename: Cristina
authors.initials: C
authors.lastname: Mugnaini
authors.forename: Bruno
authors.initials: B
authors.lastname: Alterini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Morettini
authors.forename: Carlo
authors.initials: C
authors.lastname: Nozzoli
authors.forename: Rosanna
authors.initials: R
authors.lastname: Abbate
authors.forename: Gian Franco
authors.initials: GF
authors.lastname: Gensini
authors.forename: Domenico
authors.initials: D
authors.lastname: Prisco
mesh_terms: D001281:Atrial Fibrillation / Q000097:blood / Q000150:complications* / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005165:Factor V; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D013923:Thromboembolism / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D019851:Thrombophilia / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin