A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
- Department of Child and Adolescent Psychiatry and Psychotherapy
- University of Pennsylvania
- Vanderbilt School of Medicine
- University of Michigan, Ann Arbor
- Wellcome Trust
- University of Split
- Queen Mary University of London
- University of North Carolina at Chapel Hill
- University of Oxford
- King's College London (KCL)
- University of Aberdeen
- University of Duisburg-Essen
- GHU Paris Psychiatrie & Neuro sciences
- Utrecht University
- Altrecht Eating Disorders Rintveld
- University of Padua
- University of Barcelona
- CRG - Centre for Genomic Regulation
- Pompeu Fabra University
- CIBER - Center for Biomedical Research Network
- Hospital del Mar
- Institute of Psychiatry and Neurology, Warszawa
- University of Medical Sciences Poznan
- University of Helsinki
- University Hospital Carl Gustav Carus Dresden
- Harvard Medical School (HMS)
- Harvard University
Abstract
We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.
Details
Original language | English |
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Article number | 3847 |
Journal | Scientific Reports |
Volume | 7 |
Issue number | 1 |
Publication status | Published - 1 Dec 2017 |
Peer-reviewed | Yes |
External IDs
researchoutputwizard | legacy.publication#78952 |
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Scopus | 85021082843 |
PubMed | 28630421 |
ORCID | /0000-0003-2132-4445/work/159171198 |