High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • International Inflammatory Bowel Disease Genetics Consortium - (Author)
  • Neuroimaging Center
  • Montreal Heart Institute
  • University of Cambridge
  • Kiel University
  • University of Oxford
  • University of Massachusetts Boston
  • Massachusetts General Hospital
  • Harvard Medical School (HMS)
  • University Hospital of Liege (CHU)
  • Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital
  • University of California at San Francisco
  • University of Melbourne
  • University of Pittsburgh
  • Wellcome Sanger Institute
  • F Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute
  • The University of Chicago
  • University of Maryland, Baltimore County
  • Oslo Metropolitan University

Abstract

Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.

Details

Original languageEnglish
Pages (from-to)172-9
Number of pages8
JournalNature genetics
Volume47
Issue number2
Publication statusPublished - Feb 2015
Peer-reviewedYes

External IDs

PubMedCentral PMC4310771
Scopus 84928612813

Keywords

Sustainable Development Goals

Keywords

  • Alleles, Chromosome Mapping/methods, Colitis, Ulcerative/genetics, Crohn Disease/genetics, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Genotyping Techniques, HLA-DRB1 Chains/genetics, Heterozygote, Humans, Inflammatory Bowel Diseases/genetics, Major Histocompatibility Complex/genetics, Phenotype, Polymorphism, Single Nucleotide