Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
QIMR Home Page
GenEpi Home Page
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
30837455
TITLE
Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.
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.
DATE PUBLISHED
2019 Mar 05
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2018/10/12
accepted 2019/02/05
entrez 2019/03/07 06:00
pubmed 2019/03/07 06:00
medline 2019/03/07 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Dudding T Dudding Tom T Bristol Dental School, University of Bristol, Bristol, BS1 2LY, UK.
Haworth S Haworth Simon S Bristol Dental School, University of Bristol, Bristol, BS1 2LY, UK.
Lind PA Lind Penelope A PA Department of Psychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
Sathirapongsasuti JF Sathirapongsasuti J Fah JF Research, 23andMe, Inc, Mountain View, 94041, CA, USA.
23andMe Research Team
Tung JY Tung Joyce Y JY Research, 23andMe, Inc, Mountain View, 94041, CA, USA.
Mitchell R Mitchell Ruth R Medical Research Council Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
Colodro-Conde L Colodro-Conde Lucía L Department of Psychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
Medland SE Medland Sarah E SE Department of Psychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
Gordon S Gordon Scott S Department of Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
Elsworth B Elsworth Benjamin B Medical Research Council Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
Paternoster L Paternoster Lavinia L Medical Research Council Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
Franks PW Franks Paul W PW Department of Nutrition, Harvard T.H. Chan School of Public Health, Harvard University, Boston, 02115, MA, USA.
Thomas SJ Thomas Steven J SJ Bristol Dental School, University of Bristol, Bristol, BS1 2LY, UK.
Martin NG Martin Nicholas G NG Department of Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, 4006, Queensland, Australia.
Timpson NJ Timpson Nicholas J NJ 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.
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Agee Michelle M
Alipanahi Babak B
Auton Adam A
Bell Robert K RK
Bryc Katarzyna K
Elson Sarah L SL
Fontanillas Pierre P
Furlotte Nicholas A NA
Hicks Barry B
Hinds David A DA
Huber Karen E KE
Jewett Ethan M EM
Jiang Yunxuan Y
Kleinman Aaron A
Lin Keng-Han KH
Litterman Nadia K NK
McCeight Jennifer C JC
McIntyre Matthew H MH
McManus Kimberly F KF
Mountain Joanna L JL
Noblin Elizabeth S ES
Northover Carrie A M CAM
Pitts Steven J SJ
Poznik G David GD
Shelton Janie F JF
Shringarpure Suyash S
Tian Chao C
Vacic Vladimir V
Wang Xin X
Wilson Catherine H CH
JOURNAL
VOLUME: 10
ISSUE: 1
TITLE: Nature communications
ISOABBREVIATION: Nat Commun
YEAR: 2019
MONTH: Mar
DAY: 05
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2041-1723
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Commun
COUNTRY: England
ISSNLINKING: 2041-1723
NLMUNIQUEID: 101528555
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01 AA007535 NIAAA NIH HHS United States
R01 AA014041 NIAAA NIH HHS United States
R01 MH066206 NIMH NIH HHS United States
R01 AA013326 NIAAA NIH HHS United States
R56 DA012854 NIDA NIH HHS United States
R01 AA013321 NIAAA NIH HHS United States
R01 DA012854 NIDA NIH HHS United States
Wellcome Trust United Kingdom
R01 AA013320 NIAAA NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's