Genetic risk factors in patients with inflammatory bowel disease and vascular complications: case-control study

Inflamm Bowel Dis. 2007 Apr;13(4):410-5. doi: 10.1002/ibd.20076.


Background: Inherited risk factors have been suggested to play an important role in the pathogenesis of vascular complications of inflammatory bowel disease (IBD). The aim of the present study was to investigate the role of mutations associated with cardiovascular disease in IBD patients with or without vascular complications compared with thrombotic and healthy controls (HC).

Methods: Twelve polymorphisms of thrombophilic and vasoactive genes were evaluated in a group of 30 IBD patients with vascular complications (IBD-VC) compared with 60 IBD patients without vascular complications, 30 thrombotic controls (TC), and 54 healthy controls, using a commercially available kit.

Results: No significant differences between IBD-VC and TC concerning the carriage of these mutations were found. The frequencies of the factor V (FV) 506 RQ (Leiden) genotype and the 506Q allele were significantly higher in these groups than in HC (P < 0.05) but not IBD controls (P > 0.05). The allele frequency of the mutant 4G allele of the plasminogen activator inhibitor (PAI) polymorphism, similar in the IBD-VC and TC groups, was significantly higher in these groups compared with the IBD group (P = 0.03) and the HC (P = 0.001). It is noteworthy that there was a trend of association of FV R506Q polymorphism with venous thrombosis and PAI-1 gene polymorphism with arterial thrombosis.

Conclusions: Our results suggest that the investigated gene polymorphisms do not differ in patients with IBD-VC and TC. FV R506Q and PAI-1 gene polymorphisms might be associated with the increased risk of development of vascular complications in IBD.

MeSH terms

  • Adult
  • Cardiovascular Diseases / epidemiology
  • Cardiovascular Diseases / genetics*
  • Case-Control Studies
  • Factor V / genetics
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Greece / epidemiology
  • Humans
  • Inflammatory Bowel Diseases / epidemiology
  • Inflammatory Bowel Diseases / genetics*
  • Male
  • Plasminogen Activator Inhibitor 1 / genetics
  • Polymorphism, Genetic
  • Risk Factors


  • Plasminogen Activator Inhibitor 1
  • factor V Leiden
  • Factor V