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

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

Risultato della ricerca: Article

61 Citazioni (Scopus)

Abstract

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
Lingua originaleEnglish
pagine (da-a)4643-4651
Numero di pagine9
RivistaWorld Journal of Gastroenterology
Volume2008
Stato di pubblicazionePublished - 2008

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All Science Journal Classification (ASJC) codes

  • Gastroenterology

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Accomando, S., Corritore, G., Riegler, G., Cucchiara, S., De Angelis, G. L., De Angelis, G. L., Palmieri, O., Latiano, A., D'Incà, R., Ardizzone, S., Staiano, A. M., Annese, V., Bossa, F., & Valvano, M. R. (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, 2008, 4643-4651.