title: An investigation of the association of the factor V Leiden mutation and inflammatory bowel disease.
abstract: BACKGROUND
  A thrombotic aetiology for inflammatory bowel disease (IBD) has been proposed as a result of its association with thrombo-embolic complications, smoking, the oral contraceptive pill and the response of ulcerative colitis (UC) patients to heparin. The factor V Leiden (FVL) mutation is the commonest inherited risk factor for thrombo-embolism.
  
  
  OBJECTIVE
  The aim of the study was to investigate the hypothesis that the pro-thrombotic state associated with the FVL mutation is involved in the aetiology of IBD.
  
  
  METHODS
  A prospective cohort study of patients attending the Bristol Royal Infirmary IBD outpatient clinic was performed. Fifty-four patients with IBD (30 with Crohn's disease (CD) and 24 with UC) and 55 historical controls were screened for the presence of FVL using the activated protein C (APC) ratio. Abnormal APC ratios were confirmed to be due to FVL using a heteroduplex-based polymerase chain reaction (PCR) technique.
  
  
  RESULTS
  Five patients had the FVL mutation, compared to two controls. One of the patients was homozygous. Two of the patients had CD and three UC. The differences between controls and IBD patients was significant when the allelic frequency of the FVL mutation in patients with UC was compared with controls, with a risk ratio of 2.27, but with limited data.
  
  
  CONCLUSIONS
  There appears to be a weak association between FVL and UC. This association is not strong enough to imply a causal relationship, but may be responsible for some of the thrombo-embolic complications.
authors.affiliation: Department of Gastroenterology, Gloucestershire Royal Hospital, Gloucester, UK.
authors.forename: N
authors.initials: N
authors.lastname: Haslam
authors.forename: G R
authors.initials: GR
authors.lastname: Standen
authors.forename: C S
authors.initials: CS
authors.lastname: Probert
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics; D000328:Adult; D000368:Aged; D000483:Alleles; D015331:Cohort Studies; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011446:Prospective Studies
chemical_list: C095381:factor V Leiden; D005165:Factor V