• This record comes from PubMed

Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes

. 2025 May 08 ; () : . [epub] 20250508

Status PubMed-not-MEDLINE Language English Country United States Media electronic

Document type Journal Article, Preprint

Grant support
R01 MH124851 NIMH NIH HHS - United States

Links

PubMed 40385383
PubMed Central PMC12083633
DOI 10.1101/2025.01.31.25321397
PII: 2025.01.31.25321397
Knihovny.cz E-resources

Eating disorders -including anorexia nervosa (AN), bulimia nervosa, and binge eating disorder-are clinically distinct but exhibit symptom overlap and diagnostic crossover. Genomic analyses have mostly examined AN. We conducted the first genomic meta-analysis of binge eating behaviour (BE; 39,279 cases, 1,227,436 controls), alongside new analyses of AN (24,223 cases, 1,243,971 controls) and its subtypes (all European ancestries). We identified six loci associated with BE, including loci associated with higher body mass index (BMI) and impulse-control behaviours. AN GWAS yielded eight loci, validating six loci. Subsequent polygenic risk score analysis demonstrated an association with AN in two East Asian ancestry cohorts. BE and AN exhibited similar positive genetic correlations with psychiatric disorders, but opposing genetic correlations with anthropometric traits. Most of the genetic signal in BE and AN was not shared with BMI. We have extended eating disorder genomics beyond AN; future work will incorporate multiple diagnoses and global ancestries.

1st Department of Psychiatry; National and Kappodistrian University of Athens ; Athens; Greece

Adolescent Health Unit 2nd Department of Pediatrics P and A Kyriakou Children's Hospital; National and Kappodistrian University of Athens ; Athens; Greece

Altrecht Eating Disorders Rintveld; Altrecht Mental Health Institute; Zeist; Utrecht; The Netherlands

Analytic and Translational Genetics Unit; Broad Institute of the Massachusetts Institute of Technology and Harvard University; Massachusetts General Hospital; Boston; Massachusetts; United States

Bioinformatics Research Centre; Aarhus University; Aarhus; Denmark

Biological Psychiatry Laboratory; McLean Hospital; Harvard Medical School; Belmont; Massachusetts; United States

Center for Applied Genomics; Children's Hospital of Philadelphia; Philadelphia; Pennsylvania; United States

Center for Eating and feeding Disorders Research Mental Health Center Ballerup; Copenhagen University Hospital Mental Health Services; Copenhagen; Denmark

Center for Genomics and Personalized Medicine; Aarhus University; Aarhus; Denmark

Center for Translational Neuro and Behavioral Sciences; University Hospital Essen University of Duisburg Essen; Essen; Northrhine Westfalia; Germany

Centre for Human Genetics; University of Marburg; Marburg; Germany

Centre for Occupational and Environmental Medicine; Region Stockholm; Stockholm; Sweden

Centre for Precision Psychiatry; University of Oslo; Oslo; Norway

Centre for Psychological Services; University of Barcelona; Barcelona; Catalonia; Spain

Centre for Research in Eating and Weight Disorders Department of Psychological Medicine; Institute of Psychiatry Psychology and Neuroscience; King's College London; London; United Kingdom

Ciber Physiopathology of Obesity and Nutrition ; Instituto de Salud Carlos III; Madrid; Spain

Clinic for Child and Adolescent Psychiatry Psychotherapy and Psychosomatics; German Red Cross Hospitals Berlin; Berlin; Germany

Clinical Psychology Program; The Chicago School Washington DC College of Clinical Psychology; Washington DC; United States

CNRS INSERM l'institut du thorax; Universite de Nantes; Nantes; France

College of Nursing; Seattle University; Seattle; Washington; United States

Department for Medical Biology; University of Split School of Medicine; Split; Croatia

Department of Adult Psychiatry; Poznan University of Medical Sciences; Poznan; Poland

Department of Biomedicine; Aarhus University; Aarhus; Denmark

Department of C and A Psychiatry; Medical University of Vienna; Vienna; Austria

Department of Cancer Epidemiology and Genetics; Masaryk Memorial Cancer Institute; Brno; Czech Republic

Department of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy Center of Mental Health; University Hospital Wuerzburg; Wurzburg; Bavaria; Germany

Department of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy; Ludwig Maximilians Universitat Munchen; Munich; Germany

Department of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy; LVR University Clinic Essen University of Duisburg Essen; Essen; Northrhine Westfalia; Germany

Department of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy; RWTH Aachen University; Aachen; Germany

Department of Child and Adolescent Psychiatry; Oberberg Fachklinik Fasanenkiez Berlin; Berlin; Germany

Department of Child and Adolescent Psychiatry; Poznan University of Medical Sciences; Poznan; Poland

Department of Clinical Educational and Health Psychology; University College London; London; United Kingdom

Department of Clinical Excellence; Equip Health; Carlsbad; California; United States

Department of Clinical Medicine; University of Copenhagen; Copenhagen; Denmark

Department of Clinical Neuroscience; Karolinska Institutet; Stockholm; Sweden

Department of Clinical Psychology Faculty for Social Sciences; Utrecht University; Utrecht; Utrecht; The Netherlands

Department of Clinical Psychology; University Hospital Bellvitge; Hospitalet del Llobregat ; Barcelona; Catalonia; Spain

Department of Clinical Science; University of Bergen; Bergen; Norway

Department of Clinical Sciences; School of Medicine and Health Sciences; University of Barcelona; Hospitalet del Llobregat ; Barcelona; Catalonia; Spain

Department of Community Family and Addiction Sciences; Texas Tech University; Lubbock; Texas; United States

Department of Community Health and Epidemiology; Dalhousie University; Halifax; Nova Scotia; Canada

Department of Emergency and Post Emergency Psychiatry; CHU University of Montpellier; Montpellier; France

Department of Environmental Epidemiology; Nofer Institute of Occupational Medicine; Lodz; Poland

Department of Epidemiology; University of North Carolina at Chapel Hill; Chapel Hill; North Carolina; United States

Department of General Practice and Primary Healthcare Faculty of Medical and Health Sciences; The University of Auckland; Auckland; New Zealand

Department of Genetic Medicine; Vanderbilt University Medical Center; Nashville; Tennessee; United States

Department of Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York; New York; United States

Department of Genetics and Genomic Sciences; Mindich Child Health and Development Institute; Friedman Brain Institute; Icahn School of Medicine at Mount Sinai; New York; New York; United States

Department of Genetics; Queensland Institute of Medical Research QIMR Berghofer Medical Research Institute; Brisbane; Queensland; Australia

Department of Genetics; University of North Carolina at Chapel Hill; Chapel Hill; North Carolina; United States

Department of Genomics Life and Brain Center; University of Bonn; Bonn; Northrhine Westfalia; Germany

Department of Health Sciences; University of Florence; Florence; Italy

Department of Medical Epidemiology and Biostatistics; Karolinska Institutet; Stockholm; Sweden

Department of Medical Genetics; University of British Columbia; Vancouver; British Columbia; Canada

Department of Medical Research; Vestre Viken Hospital Trust Barum Hospital; Gjettum; Norway

Department of Medicine Solna; Division of Rheumatology; Karolinska Institutet; Stockholm; Sweden

Department of Medicine Surgery and Dentistry Scuola Medica Salernitana ; University of Salerno; Salerno; Italy

Department of Medicine; New Jersey Medical School Rutgers University; Newark; New Jersey; United States

Department of Mental and Physical Health and Preventive Medicine; University of Campania Luigi Vanvitelli ; Naples; Italy

Department of Mental Health and Neuroscience; Queensland Institute of Medical Research QIMR Berghofer Medical Research Institute; Brisbane; Queensland; Australia

Department of Neuroscience Psychology Drug Research and Child Health ; University of Florence; Florence; Italy

Department of Neuroscience; University of Padova; Padova; Italy

Department of Nutrition and Dietetics; Harokopio University; Athens; Greece

Department of Nutrition; University of North Carolina at Chapel Hill; Chapel Hill; North Carolina; United States

Department of Pathology and Biomedical Science; University of Otago; Christchurch; New Zealand

Department of Pediatrics; University of Pennsylvania Perelman School of Medicine; Philadelphia; Pennsylvania; United States

Department of Physiology; Institute of Neuroscience and Physiology; Sahlgrenska Academy at University of Gothenburg; Gothenburg; Sweden

Department of Population Health; Queensland Institute of Medical Research QIMR Berghofer Medical Research Institute; Brisbane; Queensland; Australia

Department of Psychiatric Genetics Medical Biology Center; Poznan University of Medical Sciences; Poznan; Poland

Department of Psychiatry and Behavioral Sciences; Stanford University; Stanford; California; United States

Department of Psychiatry and Biobehavioral Sciences; University of California Los Angeles; Los Angeles; California; United States

Department of Psychiatry and Neurochemistry; Institute of Neuroscience and Physiology; University of Gothenburg; Gothenburg; Sweden

Department of Psychiatry and Psychotherapy Comprehensive Center for Clinical Neurosciences and Mental Health ; Medical University of Vienna; Vienna; Austria

Department of Psychiatry and Psychotherapy; Charite Universitatsmedizin; Berlin; Germany

Department of Psychiatry; 1st Faculty of Medicine; Charles University and General University Hospital; Prague; Czech Republic

Department of Psychiatry; Boston University Chobanian and Avedisian School of Medicine; Boston; Massachusetts; United States

Department of Psychiatry; Centre for Addiction and Mental Health; University of Toronto; Toronto; Ontario; Canada

Department of Psychiatry; Division of Psychiatric Genomics; Icahn School of Medicine at Mount Sinai; New York; New York; United States

Department of Psychiatry; ERC Pathlight; University of Maryland St Joseph Medical Center; Baltimore; Maryland; United States

Department of Psychiatry; Helsinki University Hospital; Helsinki; Finland

Department of Psychiatry; Icahn School of Medicine at Mount Sinai; New York; New York; United States

Department of Psychiatry; Ilsan Paik Hospital Inje University; Goyang; South Korea

Department of Psychiatry; Leiden University Medical Centre; Leiden; The Netherlands

Department of Psychiatry; Reinier van Arkel; s Hertogenbosch; Northern Brabant; The Netherlands

Department of Psychiatry; Rutgers University; Piscataway; New Jersey; United States

Department of Psychiatry; University of California San Diego; San Diego; California; United States

Department of Psychiatry; University of Campania Luigi Vanvitelli ; Naples; Italy

Department of Psychiatry; University of Minnesota; Minneapolis; Minnesota; United States

Department of Psychiatry; University of North Carolina at Chapel Hill; Chapel Hill; North Carolina; United States

Department of Psychiatry; University of Perugia; Perugia; Italy

Department of Psychiatry; University of Toronto; Toronto; Ontario; Canada

Department of Psychiatry; University of Wisconsin; Madison; Wisconsin; United States

Department of Psychological Medicine; Stress Psychiatry and Immunology Laboratory; Institute of Psychiatry Psychology and Neuroscience; King's College London; London; United Kingdom

Department of Psychological Medicine; University of Otago; Christchurch; New Zealand

Department of Psychology; Michigan State University; East Lansing; Michigan; United States

Department of Psychology; PROMENTA Research Centre; University of Oslo; Oslo; Norway

Department of Psychology; University of Texas; Austin; Texas; United States

Department of Psychosomatic Medicine and Psychotherapy; Hannover Medical School; Hannover; Germany

Department of Psychosomatic Medicine and Psychotherapy; University Medical Hospital Tuebingen; Tuebingen; Germany

Department of Public Health; University of Helsinki; Helsinki; Finland

Department of Translational Neuroscience; UMC Utrecht Brain Center; University Medical Center Utrecht Utrecht University; Utrecht; Utrecht; The Netherlands

Department of Women's and Children's Health; University of Padova; Padova; Italy

Discipline of Psychology; Curtin University; Perth; Western Australia; Australia

Discipline of Psychology; Flinders Institute for Mental Health and Wellbeing; Adelaide; South Australia; Australia

Division of Human Genetics; Children's Hospital of Philadelphia; Philadelphia; Pennsylvania; United States

Division of Mental Health and Addiction; NORMENT KG Jebsen Centre; Oslo University Hospital; Oslo; Norway

Division of Psychological and Social Medicine and Developmental Neuroscience; Technische Universitat Dresden; Dresden; Germany

Eating Disorder Research and Treatment Center Department of Child and Adolescent Psychiatry; Faculty of Medicine; Technische Universitat Dresden; Dresden; Germany

Eating Disorders Unit Department of Child and Adolescent Psychiatry; Medical University of Vienna; Vienna; Austria

Eating Disorders Unit; Parkland Klinik; Bad Wildungen; Germany

Eating Recovery Center; Denver; Colorado; United States

Eating Recovery Center; Hunt Valley; Maryland; United States

Estonian Genome Centre Institute of Genomics; University of Tartu; Tartu; Estonia

Faculty of Medicine; Sigmund Freud University; Vienna; Austria

German Center for Mental Health ; Berlin Potsdam; Germany

German Centre for Mental Health Tuebingen; University Tuebingen; Tuebingen; Germany

GGZ Rivierduinen Eating Disorders Ursula; Leiden; The Netherlands

Graduate Program in Bioinformatics; University of British Columbia; Vancouver; British Columbia; Canada

Great Ormond Street Institute of Child Health; University College London; London; United Kingdom

Groningen Institute for Evolutionary Life Sciences; University of Groningen; Groningen; The Netherlands

Helmholtz Zentrum Munchen German Research Centre for Environmental Health; Institute of Translational Genomics; Neuherberg; Germany

Human Genomics Research Group Department of Biomedicine; University of Basel; Basel; Basel Stadt; Switzerland

INSERM U1124; Universite de Paris; Paris; Ile de France; France

INSERM U1266; INSERM U1266; Paris; Ile de France; France

InsideOut Institute; University of Sydney; Sydney; Australia

Institute for Human Genetics; University of Bonn School of Medicine and University Hospital Bonn; Bonn; Northrhine Westfalia; Germany

Institute for Molecular Medicine Finland FIMM Helsinki Institute of Life Science HiLIFE; University of Helsinki; Helsinki; Finland

Institute of Applied Health Sciences; University of Aberdeen; Aberdeen; Scotland; United Kingdom

Institute of Biological Psychiatry; Mental Health Center Sct Hans; Mental Health Services Copenhagen; Roskilde; Denmark

Institute of Biology and Medical Genetics; 1st Faculty of Medicine; Charles University; Prague; Czech Republic

Institute of Clinical Medicine; University of Oslo; Oslo; Norway

Institute of Environmental Medicine; Karolinska Institutet; Stockholm; Sweden

Institute of Mathematics and Statistics; University of Tartu; Tartu; Estonia

Institute of Neuroscience and Medicine ; Research Center Juelich; Juelich; Germany

Institute of Psychiatric Phenomics and Genomics ; Ludwig Maximilians Universitat Munchen; Munich; Germany

Institute of Psychiatry Psychology and Neuroscience Social Genetic and Developmental Psychiatry Centre; King's College London; London; United Kingdom

Institute of Public Health and Clinical Nutrition; University of Eastern Finland; Kuopio; Finland

Institute of Sex and Gender Sensitive Medicine; University Hospital Essen University of Duisburg Essen; Essen; Northrhine Westfalia; Germany

KG Jebsen Centre for Neurodevelopmental Disorders Research; University of Oslo; Oslo; Norway

Maria Sklodowska Curie National research Institute of Oncology; Warsaw; Poland

McLaughlin Centre and Department of Molecular Genetics; University of Toronto; Toronto; Ontario; Canada

MRC Integrative Epidemiology Unit Population Health Sciences; Bristol Medical School; University of Bristol; Bristol; United Kingdom

National Center for PTSD; VA Boston Healthcare System; Boston; Massachusetts; United States

National Centre for Register based Research; Aarhus University; Aarhus; Denmark

National Institute for Health and Care Research Maudsley Biomedical Research Centre; South London and Maudsley NHS Foundation Trust; London; United Kingdom

National Institute for Health Research Biomedical Research Centre; King's College London and South London and Maudsley National Health Service Trust; London; United Kingdom

Oregon Research Institute; Springfield; Oregon; United States

Padova Neuroscience Center; University of Padova; Padova; Italy

PsychGen Centre for Genetic Epidemiology and Mental Health; Norwegian Institute of Public Health; Oslo; Norway

Psychiatric Genetic Epidemiology Group Research Department; Lovisenberg Diakonale Hospital; Oslo; Norway

Psychiatry and Behavioral Science; University of North Dakota; Fargo; North Dakota; United States

Psychoneurobiology of Eating and Addictive Behaviors Research Group; Bellvitge Biomedical Research Institute ; Barcelona; Catalonia; Spain

Research Department; Quantitative Genomics Laboratories ; Barcelona; Catalonia; Spain

Rheumatology Research Group; Vall d'Hebron Research Institute; Barcelona; Catalonia; Spain

Sainte Anne hospital ; GHU Paris Psychiatrie et Neurosciences; Paris; Ile de France; France

School of Psychology and Counselling; Queensland University of Technology; Brisbane; Queensland; Australia

School of Psychology; University of Queensland; Brisbane; Queensland; Australia

Section for Molecular Genetics in Mental Disorders; LVR University Clinic Essen University of Duisburg Essen; Essen; Northrhine Westfalia; Germany

Specialist Mental Health Clinical Research Unit; Health New Zealand Canterbury; Christchurch; New Zealand

Stanley Center for Psychiatric Research; Broad Institute of the Massachusetts Institute of Technology and Harvard University; Cambridge; Massachusetts; United States

Tanenbaum Centre; Centre for Addiction and Mental Health; Toronto; Ontario; Canada

The Centre for Applied Genomics Program in Genetics and Genomic Biology; The Hospital for Sick Children; Toronto; Ontario; Canada

The Lundbeck Foundation Initiative for Integrative Psychiatric Research ; Aarhus University; Aarhus; Denmark

The Weindrich Department of AI and Human Health; Icahn School of Medicine at Mount Sinai; New York; New York; United States

Universite Paris Cite INSERM U1266 ; Institute of Psychiatry and Neuroscience of Paris; Paris; Ile de France; France

Universite Paris Cite; Paris; Ile de France; France

Vanderbilt Genetics Institute; Vanderbilt University; Nashville; Tennessee; United States

See more in PubMed

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-5®). (American Psychiatric Pub, 2013).

Schaumberg K. et al. Patterns of diagnostic transition in eating disorders: a longitudinal population study in Sweden. Psychol. Med. 49, 819–827 (2019). PubMed PMC

Abdulkadir M. et al. Descriptives and genetic correlates of eating disorder diagnostic transitions and presumed remission in the danish registry. Biol. Psychiatry (2025) doi:10.1016/j.biopsych.2025.01.008. PubMed DOI

Wang K. et al. A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. Mol. Psychiatry 16, 949–959 (2011). PubMed

Boraska V. et al. A genome-wide association study of anorexia nervosa. Mol. Psychiatry 19, 1085–1094 (2014). PubMed PMC

Watson H. J. et al. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nat. Genet. 51, 1207–1214 (2019). PubMed PMC

Duncan L. et al. Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa. Am. J. Psychiatry 174, 850–858 (2017). PubMed PMC

Arcelus J., Mitchell A. J., Wales J. & Nielsen S. Mortality rates in patients with anorexia nervosa and other eating disorders. A meta-analysis of 36 studies. Arch. Gen. Psychiatry 68, 724–731 (2011). PubMed

Wade T. D. et al. Genetic variants associated with disordered eating. Int. J. Eat. Disord. 46, 594–608 (2013). PubMed PMC

Burstein D. et al. Genome-wide analysis of a model-derived binge eating disorder phenotype identifies risk loci and implicates iron metabolism. Nat. Genet. 55, 1462–1470 (2023). PubMed PMC

Bulik C. M. et al. Understanding the relation between anorexia nervosa and bulimia nervosa in a Swedish national twin sample. Biol. Psychiatry 67, 71–77 (2010). PubMed PMC

Lilenfeld L. R. et al. A controlled family study of anorexia nervosa and bulimia nervosa: psychiatric disorders in first-degree relatives and effects of proband comorbidity. Arch. Gen. Psychiatry 55, 603–610 (1998). PubMed

Hudson J. I., Hiripi E., Pope H. G. & Kessler R. C. The prevalence and correlates of eating disorders in the National Comorbidity Survey Replication. Biol. Psychiatry 61, 348–358 (2007). PubMed PMC

Loh P.-R., Kichaev G., Gazal S., Schoech A. P. & Price A. L. Mixed-model association for biobank-scale datasets. Nat. Genet. 50, 906–908 (2018). PubMed PMC

Galmiche M., Déchelotte P., Lambert G. & Tavolacci M. P. Prevalence of eating disorders over the 2000–2018 period: a systematic literature review. Am. J. Clin. Nutr. 109, 1402–1413 (2019). PubMed

Peyrot W. J. & Price A. L. Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS. Nat. Genet. 53, 445–454 (2021). PubMed PMC

Demange P. et al. Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction. Nat. Genet. 53, 35–44 (2021). PubMed PMC

Pulit S. L. et al. Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum. Mol. Genet. 28, 166–174 (2019). PubMed PMC

Barbeira A. N. et al. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nat. Commun. 9, 1825 (2018). PubMed PMC

de Leeuw C. A., Mooij J. M., Heskes T. & Posthuma D. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput. Biol. 11, e1004219 (2015). PubMed PMC

Fisher E. & Feng J. RNA splicing regulators play critical roles in neurogenesis. Wiley Interdiscip. Rev. RNA 13, e1728 (2022). PubMed

Hübel C. et al. One size does not fit all. Genomics differentiates among anorexia nervosa, bulimia nervosa, and binge-eating disorder. Int. J. Eat. Disord. 54, 785–793 (2021). PubMed PMC

Forgetta V. et al. An effector index to predict target genes at GWAS loci. Hum. Genet. 141, 1431–1447 (2022). PubMed

Finucane H. K. et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228–1235 (2015). PubMed PMC

Siletti K. et al. Transcriptomic diversity of cell types across the adult human brain. Science 382, eadd7046 (2023). PubMed

Yao S. et al. Connecting genomic results for psychiatric disorders to human brain cell types and regions reveals convergence with functional connectivity. Nat. Commun. 16, 395 (2025). PubMed PMC

Pasman J. A. et al. Genetic risk for smoking: disentangling interplay between genes and socioeconomic status. Behav. Genet. 52, 92–107 (2022). PubMed PMC

Baselmans B. et al. The Genetic and Neural Substrates of Externalizing Behavior. Biol Psychiatry Glob Open Sci 2, 389–399 (2022). PubMed PMC

Pickrell J. K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 48, 709–717 (2016). PubMed PMC

Farstad S. M. et al. The influence of impulsiveness on binge eating and problem gambling: A prospective study of gender differences in Canadian adults. Psychol. Addict. Behav. 29, 805–812 (2015). PubMed

Meule A. & Platte P. Facets of impulsivity interactively predict body fat and binge eating in young women. Appetite 87, 352–357 (2015). PubMed

Fernández-Aranda F. et al. Impulse control disorders in women with eating disorders. Psychiatry Res. 157, 147–157 (2008). PubMed

Bradfield J. P. et al. A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Hum. Mol. Genet. 28, 3327–3338 (2019). PubMed PMC

Loos R. J. F. & Yeo G. S. H. The genetics of obesity: from discovery to biology. Nat. Rev. Genet. 23, 120–133 (2022). PubMed PMC

Micali N., Field A. E., Treasure J. L. & Evans D. M. Are obesity risk genes associated with binge eating in adolescence? Obesity (Silver Spring) 23, 1729–1736 (2015). PubMed PMC

Peters T. et al. Suggestive evidence for causal effect of leptin levels on risk for anorexia nervosa: results of a mendelian randomization study. Front. Genet. 12, 733606 (2021). PubMed PMC

Trubetskoy V. et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 604, 502–508 (2022). PubMed PMC

Letinic K., Zoncu R. & Rakic P. Origin of GABAergic neurons in the human neocortex. Nature 417, 645–649 (2002). PubMed

Thornton L. M. et al. The Anorexia Nervosa Genetics Initiative (ANGI): Overview and methods. Contemp. Clin. Trials 74, 61–69 (2018). PubMed PMC

de Vlaming R. et al. Meta-GWAS Accuracy and Power (MetaGAP) Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies. PLoS Genet. 13, e1006495 (2017). PubMed PMC

Wang X. et al. Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability. Am. J. Hum. Genet. 110, 1207–1215 (2023). PubMed PMC

Abdulkadir M. et al. Eating disorder symptoms and their associations with anthropometric and psychiatric polygenic scores. Eur. Eat. Disord. Rev. 30, 221–236 (2022). PubMed PMC

Watson H. J. et al. Common genetic variation and age of onset of anorexia nervosa. Biological Psychiatry Global Open Science 2, 368–378 (2022). PubMed PMC

Padrutt E. R. et al. Pubertal timing and adolescent outcomes: investigating explanations for associations with a genetically informed design. J. Child Psychol. Psychiatry 64, 1232–1241 (2023). PubMed PMC

Bralić I. et al. Association of early menarche age and overweight/obesity. J. Pediatr. Endocrinol. Metab. 25, 57–62 (2012). PubMed

Klump K. L. Puberty as a critical risk period for eating disorders: a review of human and animal studies. Horm. Behav. 64, 399–410 (2013). PubMed PMC

Hübel C. et al. Persistent thinness and anorexia nervosa differ on a genomic level. Eur. J. Hum. Genet. 32, 117–124 (2024). PubMed PMC

Müller M. J. From BMI to functional body composition. Eur. J. Clin. Nutr. 67, 1119–1121 (2013). PubMed

Akingbuwa W. A. & Nivard M. G. Detecting Non-linear Dependence through Genome Wide Analysis. BioRxiv (2025) doi:10.1101/2025.02.12.637804. DOI

NCD Risk Factor Collaboration (NCD-RisC). Rising rural body-mass index is the main driver of the global obesity epidemic in adults. Nature 569, 260–264 (2019). PubMed PMC

Huckins L. M. et al. What next for eating disorder genetics? Replacing myths with facts to sharpen our understanding. Mol. Psychiatry 27, 3929–3938 (2022). PubMed PMC

Dueñas H. R., Seah C., Johnson J. S. & Huckins L. M. Implicit bias of encoded variables: frameworks for addressing structured bias in EHR-GWAS data. Hum. Mol. Genet. 29, R33–R41 (2020). PubMed PMC

Johnson J. S. et al. Mapping anorexia nervosa genes to clinical phenotypes. Psychol. Med. 53, 2619–2633 (2023). PubMed PMC

Tiego J. et al. Precision behavioral phenotyping as a strategy for uncovering the biological correlates of psychopathology. Nat. Ment. Health 1, 304–315 (2023). PubMed PMC

Zhou W. et al. Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. Nat. Genet. 50, 1335–1341 (2018). PubMed PMC

Mbatchou J. et al. Computationally efficient whole-genome regression for quantitative and binary traits. Nat. Genet. 53, 1097–1103 (2021). PubMed

Chen W. et al. Improved analyses of GWAS summary statistics by reducing data heterogeneity and errors. Nat. Commun. 12, 7117 (2021). PubMed PMC

Lam M. et al. RICOPILI: rapid imputation for consortias pipeline. Bioinformatics 36, 930–933 (2020). PubMed PMC

Willer C. J., Li Y. & Abecasis G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190–2191 (2010). PubMed PMC

Yang J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369–75, S1 (2012). PubMed PMC

Bulik-Sullivan B. et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291–295 (2015). PubMed PMC

Ekeroth K., Clinton D., Norring C. & Birgegård A. Clinical characteristics and distinctiveness of DSM-5 eating disorder diagnoses: findings from a large naturalistic clinical database. J. Eat. Disord. 1, 31 (2013). PubMed PMC

International HapMap 3 Consortium et al. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52–58 (2010). PubMed PMC

Grotzinger A. D., Fuente J. de la, Privé F., Nivard M. G. & Tucker-Drob E. M. Pervasive Downward Bias in Estimates of Liability-Scale Heritability in Genome-wide Association Study Meta-analysis: A Simple Solution. Biol. Psychiatry 93, 29–36 (2023). PubMed PMC

Zheng J. et al. LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics 33, 272–279 (2017). PubMed PMC

Hübel C. et al. Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Am. J. Med. Genet. B Neuropsychiatr. Genet. 180, 428–438 (2019). PubMed PMC

Grotzinger A. D. et al. Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits. Nat. Hum. Behav. 3, 513–525 (2019). PubMed PMC

R Core Team and Others. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing. Available (2013).

Aschard H., Vilhjálmsson B. J., Joshi A. D., Price A. L. & Kraft P. Adjusting for heritable covariates can bias effect estimates in genome-wide association studies. Am. J. Hum. Genet. 96, 329–339 (2015). PubMed PMC

Hemani G. et al. The MR-Base platform supports systematic causal inference across the human phenome. eLife 7, (2018). PubMed PMC

Verbanck M., Chen C.-Y., Neale B. & Do R. Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases. Nat. Genet. 50, 693–698 (2018). PubMed PMC

Haycock P. C. et al. Best (but oft-forgotten) practices: the design, analysis, and interpretation of Mendelian randomization studies. Am. J. Clin. Nutr. 103, 965–978 (2016). PubMed PMC

Bowden J., Davey Smith G. & Burgess S. Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. Int. J. Epidemiol. 44, 512–525 (2015). PubMed PMC

Rees J. M. B., Wood A. M., Dudbridge F. & Burgess S. Robust methods in Mendelian randomization via penalization of heterogeneous causal estimates. PLoS ONE 14, e0222362 (2019). PubMed PMC

Barbeira A. N. et al. Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. Genome Biol. 22, 49 (2021). PubMed PMC

Gamazon E. R. et al. A gene-based association method for mapping traits using reference transcriptome data. Nat. Genet. 47, 1091–1098 (2015). PubMed PMC

Huckins L. M. et al. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat. Genet. 51, 659–674 (2019). PubMed PMC

PredictDB Team. CommonMind consortium - Brain Dorsolateral Prefrontal Cortex. (2019).

GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020). PubMed PMC

Barbeira A. N. et al. Integrating predicted transcriptome from multiple tissues improves association detection. PLoS Genet. 15, e1007889 (2019). PubMed PMC

Gaspar H. A. & Breen G. Drug enrichment and discovery from schizophrenia genome-wide association results: an analysis and visualisation approach. Sci. Rep. 7, 12460 (2017). PubMed PMC

Durinck S., Spellman P. T., Birney E. & Huber W. Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt. Nat. Protoc. 4, 1184–1191 (2009). PubMed PMC

Freshour S. L. et al. Integration of the Drug-Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts. Nucleic Acids Res. 49, D1144–D1151 (2021). PubMed PMC

Roth B. L., Lopez E., Patel S. & Kroeze W. K. The multiplicity of serotonin receptors: uselessly diverse molecules or an embarrassment of riches? Neuroscientist 6, 252–262 (2000).

Mendez D. et al. ChEMBL: towards direct deposition of bioassay data. Nucleic Acids Res. 47, D930–D940 (2019). PubMed PMC

Sheils T. K. et al. TCRD and Pharos 2021: mining the human proteome for disease biology. Nucleic Acids Res. 49, D1334–D1346 (2021). PubMed PMC

Yoo M. et al. DSigDB: drug signatures database for gene set analysis. Bioinformatics 31, 3069–3071 (2015). PubMed PMC

WHO Collaborating Centre for Drug Statistics Methodology. ATC/DDD Index 2023. (2023).

GTEx Consortium et al. Genetic effects on gene expression across human tissues. Nature 550, 204–213 (2017). PubMed PMC

Bryois J. et al. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease. Nat. Genet. 52, 482–493 (2020). PubMed PMC

Finucane H. K. et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat. Genet. 50, 621–629 (2018). PubMed PMC

Ge T., Chen C.-Y., Ni Y., Feng Y.-C. A. & Smoller J. W. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat. Commun. 10, 1776 (2019). PubMed PMC

Purcell S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007). PubMed PMC

Choi S. W., Mak T. S.-H. & O’Reilly P. F. Tutorial: a guide to performing polygenic risk score analyses. Nat. Protoc. 15, 2759–2772 (2020). PubMed PMC

Lee S. H., Goddard M. E., Wray N. R. & Visscher P. M. A better coefficient of determination for genetic profile analysis. Genet. Epidemiol. 36, 214–224 (2012). PubMed

Robin X. et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves. BMC Bioinformatics 12, 77 (2011). PubMed PMC

CRAN: Package pracma. 10.32614/CRAN.package.pracma. DOI

Nakai Y., Nin K. & Goel N. J. The changing profile of eating disorders and related sociocultural factors in Japan between 1700 and 2020: A systematic scoping review. Int. J. Eat. Disord. 54, 40–53 (2021). PubMed PMC

Find record

Citation metrics

Loading data ...