Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult-and pediatric-onset inflammatory bowel disease in Italy

Anna Latiano, Orazio Palmieri, Maria Rosa Valvano, Renata D'Incà, Salvatore Cucchiara, Gabriele Riegler, Anna Maria Staiano, Sandro Ardizzone, Salvatore Accomando, Gian Luigi de Angelis, Giuseppe Corritore, Fabrizio Bossa, Vito Annese

Research output: Contribution to journalArticle

Abstract

Aim: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. Methods: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age <19 years), 843 with ulcerative colitis (UC, 179 diagnosed <19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. Results: The frequency of G allele of ATG16L1 SNP (Ala197Thr) was increased in patients with CD compared with controls (59% vs 54% respectively) (OR = 1.25, CI = 1.08-1.45, P = 0.003), but not in UC (55%). The frequency of A and G (minor) alleles of Arg381Gln, rs11209026 and rs7517847 variants of IL23R were reduced significantly in CD (4%, OR = 0.62, CI = 0.45-0.87, P = 0.005; 28%, OR = 0.64, CI = 0.55-0.75, P <0.01), compared with controls (6% and 38%, respectively). The A allele (but not G) was also reduced significantly in UC (4%, OR = 0.69, CI = 0.5-0.94, P = 0.019). No association was demonstrated with sub-phenotypes and interaction with CARD15, and OCTN1/2 genes, although both gene variants were associated with pediatric-onset disease. Conclusion: The present study confirms the association of IL23R polymorphisms with IBD, and ATG16L1 with CD, in both adult- and pediatric-onset subsets in our study population.

Original languageEnglish
Pages (from-to)4643-4651
Number of pages9
JournalWorld Journal of Gastroenterology
Volume14
Issue number29
DOIs
Publication statusPublished - Aug 7 2008

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Keywords

  • Autophagy-related 16-like 1
  • Crohn's disease
  • Genetic predisposition
  • Genome-wide association study
  • Inflammatory bowel disease
  • Interleukin 23 receptor
  • Pediatric inflammatory bowel disease
  • Ulcerative colitis

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Latiano, A., Palmieri, O., Valvano, M. R., D'Incà, R., Cucchiara, S., Riegler, G., Staiano, A. M., Ardizzone, S., Accomando, S., de Angelis, G. L., Corritore, G., Bossa, F., & Annese, V. (2008). Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult-and pediatric-onset inflammatory bowel disease in Italy. World Journal of Gastroenterology, 14(29), 4643-4651. https://doi.org/10.3748/wjg.14.4643