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

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

Author information

1
Medical Research Council Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
2
Bristol Dental School, University of Bristol, Bristol, BS1 2LY, UK.
3
Department of Psychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
4
Research, 23andMe, Inc, Mountain View, 94041, CA, USA.
5
Department of Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
6
Genetic and Molecular Epidemiology Unit, Department of Clinical Sciences, Lund University, Malmö, 221 00, Sweden.
7
Department of Public Health & Clinical Medicine, Umeå University, Umeå, 901 87, Sweden.
8
Department of Nutrition, Harvard T.H. Chan School of Public Health, Harvard University, Boston, 02115, MA, USA.
9
Medical Research Council Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK. N.J.Timpson@bristol.ac.uk.

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.

PMID:
30837455
PMCID:
PMC6400940
DOI:
10.1038/s41467-019-08923-6
[Indexed for MEDLINE]
Free PMC Article

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