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

作     者：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 

作者机构：U.U. O.O. di Gastroenterologia ed Endoscopia Ospedale IRCCS-CSSSan Giovanni Rotondo (Fg) 71013 Italy Cattedra di Gastroenterologia Università di PadovaPadova 35122 Italy Clinica Pediatrica Università "La Sapienza"Roma 00185 Italy Cattedra di Gastroenterologia Università di NapoliNapoli 80131 Italy Clinica Pediatrica Università di NapoliNapoli 80131 Italy Unità di Gastroenterologia Ospedale "Sacco" Milano 20157 Italy Clinica Pediatrica Università di PalermoPalermo 90128 Italy Clinica Pediatrica Università di ParmaParma 43100 Italy 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2008年第14卷第29期

页      面：4643-4651页

核心收录：

学科分类：1002[医学-临床医学] 10[医学] 

基　　金：The National Minister of Health grant  No. RC0702GA35 

主　　题：肠炎 肠溃疡 结肠疾病 遗传因素 

摘      要：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 signifi cantly 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.