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A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300
  1. Antonio Julià1,
  2. Eugeni Domènech2,3,
  3. Elena Ricart3,4,
  4. Raül Tortosa1,
  5. Valle García-Sánchez5,
  6. Javier P Gisbert3,6,
  7. Pilar Nos Mateu3,7,
  8. Ana Gutiérrez3,8,
  9. Fernando Gomollón3,9,
  10. Juan Luís Mendoza10,
  11. Esther Garcia-Planella3,11,
  12. Manuel Barreiro-de Acosta12,
  13. Fernando Muñoz13,
  14. Maribel Vera14,
  15. Cristina Saro15,
  16. Maria Esteve3,16,
  17. Montserrat Andreu17,
  18. Arnald Alonso1,
  19. María López-Lasanta1,
  20. Laia Codó18,
  21. Josep Lluís Gelpí18,19,
  22. Andres C García-Montero20,
  23. Jaume Bertranpetit21,
  24. Devin Absher22,
  25. Julián Panés3,4,
  26. Sara Marsal1
  1. 1Rheumatology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain
  2. 2Digestive System Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain
  3. 3Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Spain
  4. 4Gastroenterology Department, Hospital Clínic de Barcelona, IDIBAPS, Barcelona, Spain
  5. 5Digestive System Service, Hospital Universitario Reina Sofía, Córdoba, Spain
  6. 6Gastroenterology Service, Hospital Universitario de la Princesa and IP, Madrid, Spain
  7. 7Digestive Medicine Service, Hospital la Fe, Valencia, Spain
  8. 8Gastroenterology Service, Hospital General de Alicante, Alicante, Spain
  9. 9Digestive System Service, Hospital Clínico Universitario, Zaragoza, Spain
  10. 10Gastroenterology Service, Hospital Clínico San Carlos, Madrid, Spain
  11. 11Gastroenterology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  12. 12Gastroenterology Service, Hospital Clínico Universitario, Santiago de Compostela, Spain
  13. 13Gastroenterology Service, Complejo Hospitalario de León, León, Spain
  14. 14Gastroenterology Service, Hospital Universitario Puerta de Hierro, Madrid, Spain
  15. 15Internal Medicine Service, Hospital de Cabueñes, Gijón, Spain
  16. 16Gastroenterology Service, Hospital Universitari Mutua de Terrassa, Barcelona, Spain
  17. 17Department of Gastroenterology, IMIM, Institute of Research Hospital del Mar, Parc de Salut Mar. Pompeu Fabra University, Barcelona, Spain
  18. 18Barcelona Supercomputing Centre, Life Sciences, National Institute of Bioinformatics, Barcelona, Spain
  19. 19Department of Biochemistry and Molecular Biology, University of Barcelona, Barcelona, Spain
  20. 20Banco Nacional de ADN Carlos III, University of Salamanca, Salamanca, Spain
  21. 21Nacional Genotyping Centre (CeGen), Universitat Pompeu Fabra, Barcelona, Spain
  22. 22HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA
  1. Correspondence to Dr Eugeni Domènech, Digestive System Service, Hospital Universitari Germans Trias i Pujol, Badalona, 08196, Spain; edomenech.germanstrias{at}


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, 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.

  • Crohn's Disease
  • Genetics
  • Genetic Polymorphisms

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