Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.
Nat Commun
; 10(1): 1052, 2019 03 05.
Article
em En
| MEDLINE
| ID: mdl-30837455
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Estomatite Aftosa
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Úlceras Orais
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Predisposição Genética para Doença
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Loci Gênicos
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Fatores Imunológicos
Tipo de estudo:
Etiology_studies
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Incidence_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article