Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci

Nat Commun. 2019 Mar 5;10(1):1052. doi: 10.1038/s41467-019-08923-6.

Abstract

Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461,106) heritability is estimated at 8.2% (95% CI: 6.4%, 9.9%). This study finds 97 variants which alter the odds of developing non-specific mouth ulcers and replicate these in an independent cohort (n = 355,744) (lead variant after meta-analysis: rs76830965, near IL12A, OR 0.72 (95% CI: 0.71, 0.73); P = 4.4e-483). Additional effect estimates from three independent cohorts with more specific phenotyping and specific study characteristics support many of these findings. In silico functional analyses provide evidence for a role of T cell regulation in the aetiology of mouth ulcers. These results provide novel insight into the pathogenesis of a common, important condition.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cohort Studies
  • Computer Simulation
  • Female
  • Genetic Loci / immunology*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Immunologic Factors / genetics*
  • Immunologic Factors / immunology
  • Male
  • Middle Aged
  • Oral Ulcer / genetics*
  • Oral Ulcer / immunology
  • Stomatitis, Aphthous / genetics*
  • Stomatitis, Aphthous / immunology
  • T-Lymphocytes / immunology

Substances

  • Immunologic Factors

Supplementary concepts

  • Sutton disease 2