title: A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Rheumatology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Julià
authors.forename: Eugeni
authors.initials: E
authors.lastname: Domènech
authors.forename: Elena
authors.initials: E
authors.lastname: Ricart
authors.forename: Raül
authors.initials: R
authors.lastname: Tortosa
authors.forename: Valle
authors.initials: V
authors.lastname: García-Sánchez
authors.forename: Javier P
authors.initials: JP
authors.lastname: Gisbert
authors.forename: Pilar
authors.initials: P
authors.lastname: Nos Mateu
authors.forename: Ana
authors.initials: A
authors.lastname: Gutiérrez
authors.forename: Fernando
authors.initials: F
authors.lastname: Gomollón
authors.forename: Juan Luís
authors.initials: JL
authors.lastname: Mendoza
authors.forename: Esther
authors.initials: E
authors.lastname: Garcia-Planella
authors.forename: Manuel
authors.initials: M
authors.lastname: Barreiro-de Acosta
authors.forename: Fernando
authors.initials: F
authors.lastname: Muñoz
authors.forename: Maribel
authors.initials: M
authors.lastname: Vera
authors.forename: Cristina
authors.initials: C
authors.lastname: Saro
authors.forename: Maria
authors.initials: M
authors.lastname: Esteve
authors.forename: Montserrat
authors.initials: M
authors.lastname: Andreu
authors.forename: Arnald
authors.initials: A
authors.lastname: Alonso
authors.forename: María
authors.initials: M
authors.lastname: López-Lasanta
authors.forename: Laia
authors.initials: L
authors.lastname: Codó
authors.forename: Josep Lluís
authors.initials: JL
authors.lastname: Gelpí
authors.forename: Andres C
authors.initials: AC
authors.lastname: García-Montero
authors.forename: Jaume
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: Devin
authors.initials: D
authors.lastname: Absher
authors.forename: Julián
authors.initials: J
authors.lastname: Panés
authors.forename: Sara
authors.initials: S
authors.lastname: Marsal
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics*; D021901:DNA, Intergenic / Q000235:genetics; D050881:E1A-Associated p300 Protein / Q000235:genetics*; D005260:Female; D056426:Genetic Loci / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013030:Spain / Q000453:epidemiology
chemical_list: D002352:Carrier Proteins; D021901:DNA, Intergenic; C479529:RBX1 protein, human; D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human