title: Arg506Gln factor V mutation and Val34Leu factor XIII polymorphism in Finnish patients with inflammatory bowel disease.
abstract: BACKGROUND
  Earlier studies have indicated that inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is associated with thromboembolic complications, whereas inherited disorders of coagulation occur less often than expected in IBD patients. The point mutation Arg506Gln of factor V (Factor V Leiden), resulting in resistance to activated protein C, is the commonest inherited form of thrombophilia. Alterations in circulating levels of factor XIII (FXIII) have been reported among IBD patients. We investigated whether Factor V Leiden or inherited Val34Leu polymorphism of FXIII would associate with IBD or its clinical outcome.
  
  
  METHODS
  Factor V Leiden mutation and FXIII Val34Leu polymorphism were assayed in 328 unrelated Finnish patients with UC and 235 patients with CD by solid-phase minisequencing techniques. The control groups comprised 142 apparently healthy Finnish subjects and 120 Finnish blood donors.
  
  
  RESULTS
  The frequency of Factor V Leiden mutation among IBD patients (4.5%) was not significantly different from that in subjects living in the same area (2.1%). No significant differences could be observed in the FXIII Val34Leu polymorphism allele frequencies between patients and controls. Clinical features of IBD, including the disease extent, requirement for immunosuppressive drugs, and occurrence of complications, seemed to be independent of these two clotting factor variants analyzed.
  
  
  CONCLUSIONS
  Our data do not support an aetiologic or disease-modifying role for the factor V mutation or factor XIII Val34Leu polymorphism in IBD.
authors: Dept. of Medicine, University of Helsinki, Finland.
authors: T
authors: T
authors: Heliö
authors: U
authors: U
authors: Wartiovaara
authors: L
authors: L
authors: Halme
authors: U M
authors: UM
authors: Turunen
authors: H
authors: H
authors: Mikkola
authors: A
authors: A
authors: Palotie
authors: M
authors: M
authors: Färkkilä
authors: K
authors: K
authors: Kontula
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic
chemical_list: C095381:factor V Leiden; D005165:Factor V; D005176:Factor XIII