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

Author

Listed:
  • Tom Dudding

    (University of Bristol
    University of Bristol)

  • Simon Haworth

    (University of Bristol
    University of Bristol)

  • Penelope A. Lind

    (QIMR Berghofer Medical Research Institute)

  • J. Fah Sathirapongsasuti

    (Research, 23andMe, Inc)

  • Joyce Y. Tung

    (Research, 23andMe, Inc)

  • Ruth Mitchell

    (University of Bristol)

  • Lucía Colodro-Conde

    (QIMR Berghofer Medical Research Institute)

  • Sarah E. Medland

    (QIMR Berghofer Medical Research Institute)

  • Scott Gordon

    (QIMR Berghofer Medical Research Institute)

  • Benjamin Elsworth

    (University of Bristol)

  • Lavinia Paternoster

    (University of Bristol)

  • Paul W. Franks

    (Lund University
    Umeå University
    Harvard University)

  • Steven J. Thomas

    (University of Bristol)

  • Nicholas G. Martin

    (QIMR Berghofer Medical Research Institute)

  • Nicholas J. Timpson

    (University of Bristol)

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.

Suggested Citation

  • Tom Dudding & Simon Haworth & Penelope A. Lind & J. Fah Sathirapongsasuti & Joyce Y. Tung & Ruth Mitchell & Lucía Colodro-Conde & Sarah E. Medland & Scott Gordon & Benjamin Elsworth & Lavinia Paternos, 2019. "Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci," Nature Communications, Nature, vol. 10(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-08923-6
    DOI: 10.1038/s41467-019-08923-6
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    Cited by:

    1. Chunyan Cui & Li Mei & Danyang Wang & Pengfei Jia & Qihui Zhou & Wenguang Liu, 2023. "A self-stabilized and water-responsive deliverable coenzyme-based polymer binary elastomer adhesive patch for treating oral ulcer," Nature Communications, Nature, vol. 14(1), pages 1-19, December.

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