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

Research output: Contribution to journalArticle

Original languageEnglish
Article number1052
Number of pages12
JournalNature Communications
Volume10
DOIs
DateAccepted/In press - 5 Feb 2019
DatePublished (current) - 5 Mar 2019

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.

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    Rights statement: This is the final published version of the article (version of record). It first appeared online via Nature at https://doi.org/10.1038/s41467-019-08923-6 . Please refer to any applicable terms of use of the publisher.

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