1. A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus atRBX1-EP300
- Author
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Fernando Gomollón, Eugeni Domènech, Devin Absher, Pilar Nos Mateu, Esther Garcia-Planella, Fernando Muñoz, Elena Ricart, Arnald Alonso, Laia Codó, Maria Esteve, Antonio Julià, María López-Lasanta, Jaume Bertranpetit, Cristina Saro, Josep Lluís Gelpí, Valle García-Sánchez, Juan Luis Mendoza, Raül Tortosa, Julián Panés, Ana Gutiérrez, Montserrat Andreu, Sara Marsal, M.I. Vera, Andrés C. García-Montero, Manuel Barreiro-de Acosta, and Javier P. Gisbert
- Subjects
Adult ,Male ,Genotype ,Chromosomes, Human, Pair 22 ,Crohn's Disease ,Locus (genetics) ,Single-nucleotide polymorphism ,Genome-wide association study ,Biology ,Genetic Polymorphisms ,Polymorphism, Single Nucleotide ,Genome ,Intergenic region ,Crohn Disease ,Genetics ,Humans ,Genetic Predisposition to Disease ,Gene ,Genetic association ,Gastroenterology ,Middle Aged ,Crohn's Disease, Genetic Polymorphisms, Genetics ,Genetic Loci ,Spain ,Case-Control Studies ,Cohort ,DNA, Intergenic ,Female ,Carrier Proteins ,E1A-Associated p300 Protein ,Genome-Wide Association Study - Abstract
Objective Genome-wide association studies (GWAS) have identified multiple risk loci for Crohn9s 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, p=3.42E-8). We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. Conclusions In this GWAS performed on a southern European cohort, we have identified a new risk locus for CD between RBX1 and EP300 . This study demonstrates that using populations of different ancestry is a useful strategy to identify new risk loci for CD.
- Published
- 2012
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