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Record W2960372990 · doi:10.1038/s41588-019-0439-2

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

2019· article· en· W2960372990 on OpenAlexaff
Jacques Pantel, Hunna J. Watson, Zeynep Yılmaz, Laura M. Thornton, Christopher Hübel, Jonathan R. I. Coleman, Héléna A. Gaspar, Julien Bryois, Anke Hinney, Virpi Leppä, Manuel Mattheisen, Sarah E. Medland, Stephan Ripke, Shuyang Yao, Paola Giusti‐Rodríguez, Ken B. Hanscombe, Kirstin L. Purves, Roger A.H. Adan, Lars Alfredsson, Tetsuya Ando, Ole A. Andreassen, Jessica H. Baker, Wade H. Berrettini, Ilka Boehm, Claudette Boni, Vesna Boraska Perica, Katharina Buehren, Roland Burghardt, Matteo Cassina, Sven Cichon, Maurizio Clementi, Roger D. Cone, Philippe Courtet, Scott J. Crow, James J. Crowley, Unna N. Danner, Oliver S. P. Davis, Martina de Zwaan, George Dedoussis, Daniela Degortes, Janiece E. DeSocio, Danielle M. Dick, Dimitris Dikeos, Christian Dina, Monika Dmitrzak‐Węglarz, Elisa Docampo, Laramie E. Duncan, Karin Egberts, Stefan Ehrlich, Geòrgia Escaramís, Tõnu Esko, Xavier Estivill, Anne Farmer, Angela Favaro, Fernando Fernández‐Aranda, Manfred M. Fichter, Krista Fischer, Manuel Föcker, Lenka Foretová, Andreas J. Forstner, Monica Forzan, Christopher S. Franklin, Steven Gallinger, Ina Giegling, Johanna Giuranna, Fragiskos Gonidakis, Philip Gorwood, Monica Gratacos Mayora, Sébastien Guillaume, Yiran Guo, Håkon Håkonarson, Konstantinos Hatzikotoulas, Joanna Hauser, Johannes Hebebrand, Sietske G. Helder, Stefan Herms, Beate Herpertz‐Dahlmann, Wolfgang Herzog, Laura M. Huckins, James I. Hudson, Hartmut Imgart, Hidetoshi Inoko, Vladimí­r Janout, Susana Jiménez‐Múrcia, Antonio Julià, Gursharan Kalsi, Deborah Kaminská, Jaakko Kaprio, Leila Karhunen, Andreas Karwautz, Martien J. Kas, James L. Kennedy, Anna Keski‐Rahkonen, Kirsty Kiezebrink, Youl‐Ri Kim, Lars Klareskog, Kelly L. Klump, Gun Peggy Knudsen, Maria C. La Via, Stéphanie Le Hellard, Robert D. Levitan, Dong Li, Lisa Lilenfeld, Bochao Lin, Jolanta Lissowska, Jurjen J. Luykx, Pierre J. Magistretti, Mario Maj, Katrin Männik, Sara Marsal, Christian R. Marshall, Morten Mattingsdal, Sara McDevitt, Peter McGuffin, Andres Metspalu, Ingrid Meulenbelt, Nadia Micali, Karen S. Mitchell, Alessio Maria Monteleone, Palmiero Monteleone, Melissa A. Munn‐Chernoff, Benedetta Nacmias, Marie Navratilova, Ιωάννα Ντάλλα, Julie K. O’Toole, Roel A. Ophoff, Leonid Padyukov, Aarno Palotie, Hana Papežová, Dalila Pinto, Raquel Rabionet, Anu Raevuori, Nicolás Ramoz, Ted Reichborn‐Kjennerud, Valdo Ricca, Samuli Ripatti, Franziska Ritschel, Marion Roberts, Alessandro Rotondo, Dan Rujescu, Filip Rybakowski, Paolo Santonastaso, André Scherag, Stephen W. Scherer, Ulrike Schmidt, Nicholas J. Schork, Alexandra Schosser, Jochen Seitz, Lenka Šlachtová, P. Eline Slagboom, M Landt, Agnieszka Slopien, Sandro Sorbi, Beata Świątkowska, Jin P. Szatkiewicz, Ioanna Tachmazidou, Elena Tenconi, Alfonso Tortorella, Federica Tozzi, Janet Treasure, Άρτεμις Τσίτσικα, Marta Tyszkiewicz‐Nwafor, Konstantinos Tziouvas, Annemarie Elburg, Eric F. van Furth, Gudrun Wagner, Esther Walton, Elisabeth Widén, Eleftheria Zeggini, Stephanie Zerwas, Stephan Zipfel, Andrew W. Bergen, Joseph M. Boden, Harry Brandt, Steven Crawford, Katherine A. Halmi, L. John Horwood, Craig Johnson, Allan S. Kaplan, Walter H. Kaye, James E. Mitchell, Catherine M. Olsen, John F. Pearson, Nancy L. Pedersen, Michael Strober, Thomas Werge, David C. Whiteman, D. Blake Woodside, Garret D. Stuber, Scott D. Gordon, Jakob Grove, Anjali K. Henders, Anders Juréus, Katherine M. Kirk, Janne Tidselbak Larsen, Richard Parker, Liselotte Petersen, Jennifer Jordan, Martin A. Kennedy, Grant W. Montgomery, Tracey Wade, Andreas Birgegård, Paul Lichtenstein, Claes Norring, Mikael Landén, Nicholas G. Martin, Preben Bo Mortensen, Patrick F. Sullivan, Gerome Breen, Cynthia M. Bulik

Bibliographic record

VenueNature Genetics · 2019
Typearticle
Languageen
FieldPsychology
TopicEating Disorders and Behaviors
Canadian institutionsUniversity Health NetworkHospital for Sick ChildrenCentre for Addiction and Mental HealthUniversity of Toronto
FundersNorth Carolina Translational and Clinical Sciences Institute, University of North Carolina at Chapel HillNational Human Genome Research InstituteNational Institute of Mental HealthNational Institute on Alcohol Abuse and AlcoholismNational Institutes of HealthNational and Kapodistrian University of AthensEli Lilly and CompanyLundbeckfondenAuckland District Health BoardFlinders UniversityChildren's Hospital of PhiladelphiaKing's College LondonMedical Research CouncilDepartment of Health and Social CareCurtin University of TechnologyLouis and Harold Price FoundationAcademy for Eating DisordersWellcome TrustGenesis PharmaShireMaudsley CharityFoundation of Hope for Research and Treatment of Mental IllnessH. Lundbeck A/SSunovionNational Institute for Health and Care ResearchSanofiGlaxoSmithKlinePfizerNational Health and Medical Research CouncilAstraZenecaNIHR BioResourceWestern Sydney UniversityBristol-Myers Squibb
KeywordsBiologyAnorexia nervosaGenome-wide association studyAssociation (psychology)Genetic associationGeneticsBioinformaticsPsychiatryEating disordersSingle-nucleotide polymorphismGeneMedicineGenotypePsychology

Abstract

fetched live from OpenAlex

Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9–4% of women and 0.3% of men2–4, with twin-based heritability estimates of 50–60%5. Mortality rates are higher than those in other psychiatric disorders6, and outcomes are unacceptably poor7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes. Genome-wide analyses identify eight independent loci associated with anorexia nervosa. Genetic correlations implicate both psychiatric and metabolic components in the etiology of this disorder, even after adjusting for the effects of common variants associated with body mass index.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.296
Teacher spread0.288 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations1,181
Published2019
Admission routes1
Has abstractyes

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