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

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

World journal of gastroenterology : WJG, 2008-08, Vol.14 (29), p.4643-4651

United States: U.U.O.O. di Gastroenterologia ed Endoscopia, Ospedale IRCCS-CSS, San Giovanni Rotondo (Fg) 71013, Italy%Cattedra di Gastroenterologia, Università di Padova, Padova 35122, Italy%Clinica Pediatrica Università "La Sapienza", Roma 00185, Italy%Cattedra di Gastroenterologia, Universià di Napoli, Napoli 80131, Italy%Clinica Pediatrica Università di Napoli, Napoli 80131, Italy%Unità di Gastroenterologia, Ospedale "Sacco", Milano 20157, Italy%Clinica Pediatrica Università di Palermo, Palermo 90128, Italy%Clinica Pediatrica Università di Parma, Parma 43100, Italy

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  • Title:
    Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult-and pediatric-onset inflammatory bowel disease in Italy
  • Author: Latiano, Anna ; Palmieri, Orazio ; Valvano, Maria Rosa ; D'Incà, Renata ; Cucchiara, Salvatore ; Riegler, Gabriele ; Staiano, Anna Maria ; Ardizzone, Sandro ; Accomando, Salvatore ; de Angelis, Gian Luigi ; Corritore, Giuseppe ; Bossa, Fabrizio ; Annese, Vito
  • Subjects: Adolescent ; Adult ; Age of Onset ; Aged ; Autophagy-Related Proteins ; Carrier Proteins - genetics ; Case-Control Studies ; Child ; Child, Preschool ; Clinical Research ; Crohn Disease - ethnology ; Crohn Disease - genetics ; Female ; Genetic Predisposition to Disease - genetics ; Genotype ; Humans ; Infant ; Inflammatory Bowel Diseases - ethnology ; Inflammatory Bowel Diseases - genetics ; Italy ; Logistic Models ; Male ; Middle Aged ; Nod2 Signaling Adaptor Protein - genetics ; Organic Cation Transport Proteins - genetics ; Polymorphism, Single Nucleotide - genetics ; Receptors, Interleukin - genetics ; Solute Carrier Family 22 Member 5 ; Young Adult ; 结肠疾病 ; 肠溃疡 ; 遗传因素
  • Is Part Of: World journal of gastroenterology : WJG, 2008-08, Vol.14 (29), p.4643-4651
  • Notes: Inflammatory bowel disease
    Crohn＇sdisease
    Genetic predisposition
    Pediatric inflammatorybowel disease
    Autophagy-related 16-like 1
    Genome-wide association study
    14-1219/R
    R574
    Inflammatory bowel disease; Crohn＇sdisease; Ulcerative colitis; Genetic predisposition;Autophagy-related 16-like 1; Interleukin 23 receptor;Genome-wide association study; Pediatric inflammatorybowel disease
    Interleukin 23 receptor
    Ulcerative colitis
    ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
    content type line 23
    Author contributions: Latiano A and Annese V contributed equally to this work, designed and overviewed the study, and wrote the paper; Palmieri O overviewed and designed the genotyping, Valvano MR analyzed the data, D'Incà R, Cucchiara S, Riegler G, Staiano AM, Ardizzone S, Accomando S, de Angelis GL, Bossa F and Annese V provided DNA samples and clinical information; Corritore G performed the genotyping.
    Correspondence to: Dr. Vito Annese, Struttura Complessa di Endoscopia Digestiva, Ospedale “Casa Sollievo della Sofferenza” - I.R.C.C.S., Viale Cappuccini, 1, San Giovanni Rotondo 71013, Italy. v.annese@operapadrepio.it
    Telephone: +39-882-410235
    Fax: +39-882-410784
  • Description: 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.
  • Publisher: United States: U.U.O.O. di Gastroenterologia ed Endoscopia, Ospedale IRCCS-CSS, San Giovanni Rotondo (Fg) 71013, Italy%Cattedra di Gastroenterologia, Università di Padova, Padova 35122, Italy%Clinica Pediatrica Università "La Sapienza", Roma 00185, Italy%Cattedra di Gastroenterologia, Universià di Napoli, Napoli 80131, Italy%Clinica Pediatrica Università di Napoli, Napoli 80131, Italy%Unità di Gastroenterologia, Ospedale "Sacco", Milano 20157, Italy%Clinica Pediatrica Università di Palermo, Palermo 90128, Italy%Clinica Pediatrica Università di Parma, Parma 43100, Italy
  • Language: English
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