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Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis
Jonkoping Univ, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Children's and Women's health. Linköping University, Faculty of Medicine and Health Sciences.ORCID iD: 0000-0002-3582-4988
Dept Lab Med, Sweden.
Linköping University, Department of Biomedical and Clinical Sciences, Division of Surgery, Orthopedics and Oncology. Linköping University, Faculty of Medicine and Health Sciences. Cty Hosp Ryhov, Sweden.
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2020 (English)In: International Journal of Colorectal Disease, ISSN 0179-1958, E-ISSN 1432-1262, Vol. 35, no 2, p. 277-284Article in journal (Refereed) Published
Abstract [en]

Purpose The pathogenesis of appendicitis is not well understood. Environmental factors are regarded most important, but epidemiologic findings suggest a role of inflammatory and genetic mechanisms. This study determines the association of single nucleotide polymorphisms (SNPs) of inflammatory genes with appendicitis. Methods As part of a larger prospective study on the diagnostic value of inflammatory variables in appendicitis, the genotype frequency of 28 polymorphisms in 26 inflammatory response genes from the appendicitis and control patients was analyzed in blood samples from 343 patients, 100 with appendicitis, and 243 with non-specific abdominal pain, using TaqMan SNP genotyping assays. Results Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52-23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24-4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02-0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243. Stratified analysis showed difference in association with severity of disease for IL-17 rs2275913 and CD44 rs187115. Conclusions The association of gene variants on risk of appendicitis and its severity suggest an etiologic role of genetically regulated inflammatory response. This may have implications for understanding the prognosis of untreated appendicitis as a possible self-limiting disorder and for understanding the inverse association of appendicitis with ulcerative colitis.

Place, publisher, year, edition, pages
SPRINGER , 2020. Vol. 35, no 2, p. 277-284
Keywords [en]
Appendicitis; Gene polymorphism; Pathophysiology; Inflammatory bowel disease
National Category
Gastroenterology and Hepatology
Identifiers
URN: urn:nbn:se:liu:diva-164048DOI: 10.1007/s00384-019-03473-1ISI: 000511974400010PubMedID: 31845023OAI: oai:DiVA.org:liu-164048DiVA, id: diva2:1411719
Available from: 2020-03-04 Created: 2020-03-04 Last updated: 2020-03-25

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Rubér, MarieAndersson, ManneAndersson, Roland
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Division of Children's and Women's healthFaculty of Medicine and Health SciencesDivision of Surgery, Orthopedics and Oncology
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