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Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci
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2019 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 10, p. 1-12, article id 1052Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2019. Vol. 10, p. 1-12, article id 1052
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Medical Genetics
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URN: urn:nbn:se:umu:diva-157513DOI: 10.1038/s41467-019-08923-6ISI: 000460402300011PubMedID: 30837455OAI: oai:DiVA.org:umu-157513DiVA, id: diva2:1302556
Available from: 2019-04-05 Created: 2019-04-05 Last updated: 2019-04-05Bibliographically approved

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Franks, Paul W.

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