期刊
NATURE COMMUNICATIONS
卷 10, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-019-08923-6
关键词
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资金
- University of Bristol
- UK Medical Research Council [MC_UU_12013/3]
- Wellcome [201268/Z/16/Z, 201237/Z/16/Z, 102215/2/13/2]
- University of Bristol NIHR Biomedical Research Centre [102215/2/13/2, BRC-1215-20011, 202802/Z/16/Z]
- MRC Integrative Epidemiology Unit [MC_UU_12013/3]
- CRUK Integrative Cancer Epidemiology Programme [C18281/A19169]
- Welsh Assembly Government
- British Heart Foundation
- Diabetes UK
- 23andMe
- Australian National Health and Medical Research Council [241944, 339462, 389927, 389875, 389891, 389892, 389938, 442915, 442981, 496739, 552485, 552498]
- Australian Research Council [A7960034, A79906588, A79801419, DP0770096, DP0212016, DP0343921]
- FP-5 GenomEUtwin Project [QLG2-CT-2002-01254]
- U.S. National Institutes of Health (NIH) [AA07535, AA10248, AA13320, AA13321, AA13326, AA14041, DA12854, MH66206]
- Center for Inherited Disease Research, Baltimore (CIDR)
- QIMR Berghofer Fellowship
- Australian National Health and Medical Research Council Fellowship [APP1103623]
- ALSPAC
- MRC [MC_UU_12013/3] Funding Source: UKRI
- Wellcome Trust [201237/Z/16/Z, 201268/Z/16/Z] Funding Source: Wellcome Trust
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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