Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease

Anna Latiano, Orazio Palmieri, Giuseppe Corritore, Maria Rosa Valvano, Fabrizio Bossa, Salvatore Cucchiara, Massimo Castro, Gabriele Riegler, Domenica De Venuto, Renata D'Incà, Angelo Andriulli, Vito Annese

Research output: Contribution to journalArticle

Abstract

Background: To date, a number of high-profile studies have yielded over 50 inflammatory bowel disease (IBD) disease genes/loci. The polymorphisms rs9858542 (BSN) and rs3197999 (MST1), on 3p21 locus, have been found associated with susceptibility to IBD. We aimed to replicate these associations in adult and early-onset cohorts of IBD Italian patients, by analyzing also potential gene-gene interactions with variants in NOD2/CARD15, IL23R, ATG16L1, and IRGM genes, and investigating genotype-phenotype correlation. Methods: In all, 1808 patients with IBD, 855 with Crohn's disease (CD) and 953 with ulcerative colitis (UC), including 539 patients with their initial diagnosis rs9858542 2.5 × 10-7; Prs3197999 3.9 × 10-7), and UC (Prs9858542 = 3.1 × 10-4; P rs3197999 = 8 × 10-4). Prevalence of these variants was significantly increased in both adult and earlyonset IBD patients. After stepwise logistic regression, the 2 variants were associated in adult UC with distal colitis (Prs9858542 = 0.013, odds ratio [OR] = 2.04, 95% confidence interval [CI] = 1.16-3.59; Prs3197999 = 0.018, OR 1.9, 95% CI 1.2-3.3), while the rs3197999 variant was inversely associated with occurrence of extraintestinal manifestations in adult CD(P = 0.017, OR 0.6, 95% CI 0.4-0.9). Conclusions: We confirmed the association of BSN and MST1 with IBD susceptibility, either in the adult or the early-onset cohorts. These variants appeared to influence either the distal location of the disease in the UC cohort and extraintestinal manifestations in CD patients.

Original languageEnglish
Pages (from-to)1108-1117
Number of pages10
JournalInflammatory Bowel Diseases
Volume16
Issue number7
DOIs
Publication statusPublished - 2010

Keywords

  • BSN
  • Crohn's disease
  • Genotype/phenotype
  • MST1
  • Ulcerative colitis

ASJC Scopus subject areas

  • Gastroenterology
  • Immunology and Allergy

Fingerprint Dive into the research topics of 'Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease'. Together they form a unique fingerprint.

  • Cite this