Original ResearchFull Report: Basic and Translational—Alimentary TractIdentification of Risk Loci for Crohn’s Disease Phenotypes Using a Genome-Wide Association Study
Section snippets
Patients
A total of 1338 patients fulfilling Lennard-Jones16 diagnostic criteria for CD were enrolled in the discovery phase (GWAS) of this study. Patient recruitment was performed between June 2007 and December 2010 at 15 Gastroenterology Departments from different Spanish University Hospitals belonging to the Immune-Mediated Inflammatory Disease Consortium (IMIDC).15 The IMIDC is a Spanish network of researchers investigating the genomic basis of immune-mediated inflammatory diseases. A cohort of 1493
Phenotypic Characterization of the Studied Cohorts
The clinical and epidemiologic characteristics of the discovery and replication patient cohorts are shown in Table 1. The GWAS cohort was characterized by a markedly longer follow-up time than the replication cohort (median, 15.48 y; interquartile range, 11.80–20.54 y vs median, 10.65 y; interquartile range, 6.09–16.56 y; P = 4 × 10-43). Consequently, there was also a statistically significantly higher percentage of patients with severe clinical phenotypes such as B2, B3, and perianal disease
Discussion
In the present study, we report the results of a GWAS on clinically relevant phenotypes in CD. A total of 17 CD phenotypes of clinical importance were analyzed, including disease behavior, disease location, complicated disease course, age at onset, and other complications such as perianal disease and extraintestinal manifestations. By using an independent cohort of patients, we have validated the strong GWAS association of MAGI1 with stricturing behavior and a complicated stricturing disease
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Conflicts of interest The authors disclose no conflicts.
Funding Supported by the Spanish Ministry of Economy and Competitiveness grants (PSE-010000-2006-6 and IPT-010000-2010-36). The study sponsor had no role in the collection, analysis, or interpretation of the data.
Author names in bold designate shared co-first authors.