Genetic risk factors in young patients with ischemic colitis

Clin Gastroenterol Hepatol. 2008 Aug;6(8):907-11. doi: 10.1016/j.cgh.2008.03.010. Epub 2008 Jun 4.


Background & aims: Although ischemic colitis (IC) usually occurs in old people with concomitant illnesses, an increasing frequency of this disease among young people has been reported. Inherited risk factors have been suggested to play an important role in the pathogenesis of IC. The aim of this study was to investigate the prevalence and possible role of mutations associated with cardiovascular morbidity in young patients with IC.

Methods: Patients younger than 55 years old with nonocclusive colon ischemia who were conservatively treated were included in the study. The diagnosis of definite IC was based on established clinical, endoscopic, and histologic criteria. Twelve polymorphisms of thrombophilic and vasoactive genes were evaluated in a group of 19 young patients with IC compared with 52 matched healthy controls (HC) by using commercially available kit.

Results: The frequency of the 506 Q allele of the factor V (FV) 506 RQ (Leiden) mutation was significantly higher in patients with IC than in HC (P = .005). The allele frequency of the mutant 4G allele of plasminogen activator inhibitor (PAI) polymorphism was significantly higher in patients with IC compared with HC (P = .006). The frequencies of the genotypes and mutant alleles of the other 10 polymorphisms were not statistically different in the 2 groups (P > .05).

Conclusions: Our results suggest that FV R506Q and PAI-1 gene polymorphisms might be associated with the development of IC in young patients without other serious illness. Genetic predisposition might play an important role in the pathogenesis of IC in young patients.

MeSH terms

  • Adult
  • Case-Control Studies
  • Colitis, Ischemic / genetics*
  • Factor V / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Hemostasis / genetics
  • Humans
  • Male
  • Middle Aged
  • Plasminogen Inactivators / genetics
  • Polymorphism, Genetic
  • Vasoconstriction / genetics


  • Plasminogen Inactivators
  • Factor V