Association of FAS (TNFRSF6)-670 gene polymorphism with villous atrophy in coeliac disease

World J Gastroenterol. 2004 Mar 1;10(5):717-20. doi: 10.3748/wjg.v10.i5.717.


Aim: To investigate the association of FAS gene polymorphism with coeliac disease (CD) development.

Methods: FAS-G670A gene polymorphism, located in a gamma interferon activation site, was studied in 146 unrelated CD patients and 203 healthy ethnically matched controls. The restriction fragment length polymorphism (RFLP) method was used to identify FAS-G670A gene polymorphism.

Results: No significant difference was found in genotype frequency between CD cases and controls. In controls, however, the frequency of the GG genotype was significantly higher in women (26.5%) than in men (12.8%) (OR= 2.44, 95% CI 1.15-5.20, P=0.020) and it was also higher in men with CD than controls (OR=2.60, 95% CI 0.96-7.05, P=0.061). The GG genotype frequency was significantly higher in patients with most severe villous atrophy (Marsh IIIc lesions) (OR=3.74, 95% CI 1.19-11.82, P=0.025). A significantly less proportion of men suffered from Marsh IIIc lesions than women (OR=0.20, 95% CI 0.06-0.68, P=0.01). The risk of having severe villous atrophy increased with the additive effect of the G allele in women (P=0.027 for trend, age and gender adjusted).

Conclusion: FAS-G670A gene polymorphism is associated with the severity of villous atrophy in CD. Female gender is also associated with the severity of villous atrophy.

MeSH terms

  • Atrophy
  • Celiac Disease / genetics*
  • Celiac Disease / pathology*
  • Cohort Studies
  • Enterocytes / pathology
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Polymorphism, Genetic*
  • Severity of Illness Index
  • Sex Factors
  • fas Receptor / genetics*


  • fas Receptor