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

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 Paternoster, Paul W. Franks, Steven J. Thomas, Nicholas G. Martin and Nicholas J. Timpson ()
Additional contact information
Tom Dudding: University of Bristol
Simon Haworth: 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
Steven J. Thomas: University of Bristol
Nicholas G. Martin: QIMR Berghofer Medical Research Institute
Nicholas J. Timpson: University of Bristol

Nature Communications, 2019, vol. 10, issue 1, 1-12

Abstract: 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.

Date: 2019
References: Add references at CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/s41467-019-08923-6 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-08923-6

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-019-08923-6

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().