title: Inflammatory bowel diseases are not associated with major hereditary conditions predisposing to thrombosis.
abstract: Patients with inflammatory bowel diseases (IBD) are at increased risk for thromboembolic complications. Our aim was to evaluate whether the increased risk for thrombosis in IBD could be due to a genetic association of IBD with hereditary prothrombotic conditions. In all, 102 IBD patients (51 with ulcerative colitis and 51 with Crohn's disease) with no history of thrombosis and 204 matched normal subjects were enrolled. DNA specimens were evaluated by PCR and restriction fragment length polymorphism for factor V Leiden, methylene tetrahydrofolate reductase (MTHFR) and prothrombin gene mutations. In IBD patients and matched controls the observed allele frequencies were similar, being 1.5% and 1.2% for factor V Leiden gene mutation, 1.1% and 0.7% for prothrombin gene mutation, and 45.1% and 47.4% for MTHFR gene mutation, respectively. These rates also were not significantly different when patients were analyzed according to age and sex distribution, diagnosis, and extension and clinical type of disease. In conclusion, our study shows no association between IBD and the most frequent hereditary prothrombotic conditions. Other factors should be evaluated in order to understand the mechanisms underlying the thrombotic risk of IBD.
authors.affiliation: Gastroenterology Service, IRCCS Policlinico Hospital and University of Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Vecchi
authors.forename: E
authors.initials: E
authors.lastname: Sacchi
authors.forename: S
authors.initials: S
authors.lastname: Saibeni
authors.forename: G
authors.initials: G
authors.lastname: Meucci
authors.forename: L
authors.initials: L
authors.lastname: Tagliabue
authors.forename: F
authors.initials: F
authors.lastname: Duca
authors.forename: R
authors.initials: R
authors.lastname: De Franchis
mesh_terms: D000328:Adult; D000483:Alleles; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012016:Reference Values; D013927:Thrombosis / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)