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Appendicitis-I: Introduction01:22

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Inflammatory Bowel Disease II: Crohn's Disease01:30

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Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis.

Jan Dimberg1, Marie Rubér2, Marita Skarstedt3

  • 1Department of Natural Science and Biomedicine, School of Health and Welfare, Jönköping University, Jönköping, Sweden.

International Journal of Colorectal Disease
|December 18, 2019
PubMed
Summary

Genetic variations in inflammatory genes are linked to appendicitis risk and severity. This study identifies specific single nucleotide polymorphisms (SNPs) associated with appendicitis, suggesting a role for genetic factors in its development.

Keywords:
AppendicitisGene polymorphismInflammatory bowel diseasePathophysiology

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Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • The exact causes of appendicitis remain unclear, with environmental factors often emphasized.
  • However, epidemiological data suggests that genetic and inflammatory mechanisms may also play a role in appendicitis development.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in inflammatory genes and the risk of appendicitis.
  • To explore potential genetic contributions to the pathogenesis and severity of appendicitis.

Main Methods:

  • Genotyping of 28 polymorphisms in 26 inflammatory response genes was performed on blood samples from 343 individuals.
  • The study included 100 patients diagnosed with appendicitis and 243 controls with non-specific abdominal pain.
  • TaqMan SNP genotyping assays were utilized for the analysis.

Main Results:

  • Specific SNPs, including IL-13 rs1800925 and IL-17 rs2275913, showed significant associations with appendicitis risk.
  • Age was found to modify the association for IL-13 rs1800925 and CTLA4 rs3087243.
  • The severity of appendicitis was associated with IL-17 rs2275913 and CD44 rs187115 variants.

Conclusions:

  • The identified gene variants suggest that genetically regulated inflammatory responses contribute to the etiology and severity of appendicitis.
  • These findings may inform the understanding of appendicitis prognosis and its inverse relationship with ulcerative colitis.