A genome-wide association study on a southern European population identifies a new Crohn’s disease susceptibility locus at RBX1-EP300.

TitleA genome-wide association study on a southern European population identifies a new Crohn’s disease susceptibility locus at RBX1-EP300.
Publication TypeJournal Article
Year of Publication2013
AuthorsJulià, Antonio, Domènech Eugeni, Ricart Elena, Tortosa Raül, García-Sánchez Valle, Gisbert Javier P., Mateu Pilar Nos, Gutiérrez Ana, Gomollón Fernando, Mendoza Juan Luís, Garcia-Planella Esther, de Acosta Manuel Barreiro-, Muñoz Fernando, Vera Maribel, Saro Cristina, Esteve Maria, Andreu Montserrat, Alonso Arnald, López-Lasanta María, Codó Laia, Gelpí Josep-Lluis, García-Montero Andres C., Bertranpetit Jaume, Absher Devin, Panés Julián, and Marsal Sara
JournalGut
Volume62
Pagination1440-5
Date Published2013 Oct
ISSN1468-3288
KeywordsAdult, Carrier Proteins, Case-Control Studies, Chromosomes, Crohn Disease, DNA, E1A-Associated p300 Protein, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Human, Humans, Intergenic, Male, Middle Aged, Pair 22, Polymorphism, Single Nucleotide, Spain
Abstract

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OBJECTIVE: Genome-wide association studies (GWAS) have identified multiple risk loci for Crohn’s disease (CD). However, the cumulative risk exerted by these loci is low, and the likelihood that additional, as-yet undiscovered loci contribute to the risk of CD is very high. We performed a GWAS on a southern European population to identify new CD risk loci.

DESIGN: We genotyped 620 901 genome markers on 1341 CD patients and 1518 controls from Spain. The top association signals representing new candidate risk loci were subsequently analysed in an independent replication cohort of 1365 CD patients and 1396 controls.

RESULTS: We identified a genome-wide significant association on chromosome 22q13.2 in the intergenic region between the RBX1 and EP300 genes (single nucleotide polymorphism rs4820425, OR 1.27, 95% CI 1.17 to 1.38
DOI10.1136/gutjnl-2012-302865