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.
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PMID
40419993
TITLE
The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol.
ABSTRACT
BACKGROUND NlmCategory: BACKGROUND
The Eating Disorders Genetics Initiative 2 (EDGI2) is designed to explore the role of genes and environment in anorexia nervosa, bulimia nervosa, binge-eating disorder, and avoidant/restrictive food intake disorder (ARFID) with a focus on broad population representation and severe and/or longstanding illness.
METHODS NlmCategory: METHODS
The Eating Disorders Genetics Initiative 2 (EDGI2) is designed to explore the role of genes and environment in anorexia nervosa, bulimia nervosa, binge-eating disorder, and avoidant/restrictive food intake disorder (ARFID) with a focus on broad population representation and severe and/or longstanding illness. A total of 20,000 new participants (18,700 cases and 1,300 controls) will be ascertained from the United States (US), Mexico (MX), Australia (AU), Aotearoa New Zealand (NZ), Sweden (SE), and Denmark (DK). Comprehensive phenotyping and genotyping will be performed for participants in US, MX, AU, NZ, and SE using the EDGI2 questionnaire battery and participant saliva samples. In DK, case identification and genotyping will be through the National Patient Register and bloodspots archived near birth. Case-control and case-case genome-wide association studies will be conducted within EDGI2 and enhanced via meta-analysis with external data from the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED). Additional analyses will explore genetic correlations between eating disorders (EDs) and other psychiatric and metabolic traits, calculate polygenic risk scores (PRS), and leverage functional biology to evaluate clinical outcomes. Moreover, analyzing PRS for patient stratification and linking identified risk loci to clinically relevant phenotypes highlight the potential of EDGI2 for clinical translation.
DISCUSSION NlmCategory: CONCLUSIONS
The Eating Disorders Genetics Initiative 2 (EDGI2) is designed to explore the role of genes and environment in anorexia nervosa, bulimia nervosa, binge-eating disorder, and avoidant/restrictive food intake disorder (ARFID) with a focus on broad population representation and severe and/or longstanding illness. A total of 20,000 new participants (18,700 cases and 1,300 controls) will be ascertained from the United States (US), Mexico (MX), Australia (AU), Aotearoa New Zealand (NZ), Sweden (SE), and Denmark (DK). Comprehensive phenotyping and genotyping will be performed for participants in US, MX, AU, NZ, and SE using the EDGI2 questionnaire battery and participant saliva samples. In DK, case identification and genotyping will be through the National Patient Register and bloodspots archived near birth. Case-control and case-case genome-wide association studies will be conducted within EDGI2 and enhanced via meta-analysis with external data from the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED). Additional analyses will explore genetic correlations between eating disorders (EDs) and other psychiatric and metabolic traits, calculate polygenic risk scores (PRS), and leverage functional biology to evaluate clinical outcomes. Moreover, analyzing PRS for patient stratification and linking identified risk loci to clinically relevant phenotypes highlight the potential of EDGI2 for clinical translation. EDGI2 is a global expansion of the EDGI study to increase sample size, increase participant representation across multiple ancestral backgrounds, and to include ARFID. ED genetics research has historically lagged behind other psychiatric disorders, and EDGI2 is designed to rapidly advance the study of the genetics of the major EDs. Exploring EDs at both the diagnostic level and the symptom level will provide an unprecedented look at the genetic architecture underlying EDs.
TRIAL REGISTRATION NlmCategory: BACKGROUND
The Eating Disorders Genetics Initiative 2 (EDGI2) is designed to explore the role of genes and environment in anorexia nervosa, bulimia nervosa, binge-eating disorder, and avoidant/restrictive food intake disorder (ARFID) with a focus on broad population representation and severe and/or longstanding illness. A total of 20,000 new participants (18,700 cases and 1,300 controls) will be ascertained from the United States (US), Mexico (MX), Australia (AU), Aotearoa New Zealand (NZ), Sweden (SE), and Denmark (DK). Comprehensive phenotyping and genotyping will be performed for participants in US, MX, AU, NZ, and SE using the EDGI2 questionnaire battery and participant saliva samples. In DK, case identification and genotyping will be through the National Patient Register and bloodspots archived near birth. Case-control and case-case genome-wide association studies will be conducted within EDGI2 and enhanced via meta-analysis with external data from the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED). Additional analyses will explore genetic correlations between eating disorders (EDs) and other psychiatric and metabolic traits, calculate polygenic risk scores (PRS), and leverage functional biology to evaluate clinical outcomes. Moreover, analyzing PRS for patient stratification and linking identified risk loci to clinically relevant phenotypes highlight the potential of EDGI2 for clinical translation. EDGI2 is a global expansion of the EDGI study to increase sample size, increase participant representation across multiple ancestral backgrounds, and to include ARFID. ED genetics research has historically lagged behind other psychiatric disorders, and EDGI2 is designed to rapidly advance the study of the genetics of the major EDs. Exploring EDs at both the diagnostic level and the symptom level will provide an unprecedented look at the genetic architecture underlying EDs. EDGI2 is a registered clinical trial: clinicaltrials.gov NCT06594913. https://clinicaltrials.gov/study/NCT06594913 (posted September 19, 2024).
© 2025. The Author(s).
DATE PUBLISHED
2025 May 26
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2025/03/06
accepted 2025/03/26
medline 2025/05/27 06:27
pubmed 2025/05/27 00:28
entrez 2025/05/26 23:38
pmc-release 2025/05/26
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Berthold N Berthold Natasha N Perron Research Institute, Nedlands, WA, 6009, Australia.
MacDermod CM MacDermod Casey M CM Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA.
Thornton LM Thornton Laura M LM Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA.
Parker R Parker Richard R QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Locked Bag 2000, Brisbane, QLD, 4029, Australia.
Morales SAC Morales Shantal Anid Cortés SAC Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud - , Monterrey, Mexico.
Hog L Hog Liv L Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Kennedy HL Kennedy Hannah L HL Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Guintivano J Guintivano Jerry J Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA.
Sullivan PF Sullivan Patrick F PF Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Crowley JJ Crowley James J JJ Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Johnson JS Johnson Jessica S JS Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA.
Birgegård A Birgegård Andreas A Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Fundín BT Fundín Bengt T BT Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Frans E Frans Emma E Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Xu J Xu Jiayi J Division of Molecular Psychiatry, Department of Psychiatry, Yale University, New Haven, CT, USA.
Ngāti Pūkenga MP Ngāti Pūkenga Michaela Pettie MP Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Miller AL Miller Allison L AL Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Aguilar MV Aguilar Mariana Valdez MV Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA.
Barakat S Barakat Sarah S Insideout Institute for Eating Disorders, The University of Sydney, Sydney, Australia.
Abdulkadir M Abdulkadir Mohamed M Department of Public Health, National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark.
White JP White Jennifer P JP Department of Psychology, University of Albany, State University of New York, Albany, NY, USA.
Larsen JT Larsen Janne T JT Department of Public Health, National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark.
Trujillo E Trujillo Elsie E Research Department, Comenzar de Nuevo, Monterrey, Mexico.
Winterman B Winterman Bertha B Research Department, Comenzar de Nuevo, Monterrey, Mexico.
Zhang R Zhang Ruyue R Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Lawson R Lawson Rachel R South Island Eating Disorders Service, Health NZ Te Whatu Ora, Christchurch, New Zealand.
Wonderlich S Wonderlich Stephen S Department of Psychiatry and Behavioral Science, University of North Dakota School of Medicine and Health Sciences, Fargo, ND, USA.
Wonderlich J Wonderlich Joseph J Center for Biobehavioral Research, Sanford Health, Fargo, ND, USA.
Schaefer LM Schaefer Lauren M LM Center for Biobehavioral Research, Sanford Health, Fargo, ND, USA.
Mehler PS Mehler Philip S PS ACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital Authority, Denver, CO, USA.
Oakes J Oakes Judy J ACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital Authority, Denver, CO, USA.
Foster M Foster Marina M ACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital Authority, Denver, CO, USA.
Gaudiani J Gaudiani Jennifer J Gaudiani Clinic, Denver, CO, USA.
Vacuán ETC Vacuán Eva Trujillo Chi ETC Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud - , Monterrey, Mexico.
Compte EJ Compte Emilio J EJ Eating Behavior Research Center, School of Psychology, Universidad Adolfo Ibáñez, Santiago, Chile.
Petersen LV Petersen Liselotte V LV Department of Public Health, National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark.
Yilmaz Z Yilmaz Zeynep Z Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Micali N Micali Nadia N Great Ormond Street Institute of Child Health, University College London, London, UK.
Jordan J Jordan Jennifer J Health NZ - Te Whatu Ora, Christchurch, New Zealand.
Kennedy MA Kennedy Martin A MA Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud - , Monterrey, Mexico.
Maguire S Maguire Sarah S Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Huckins LM Huckins Laura M LM Division of Molecular Psychiatry, Department of Psychiatry, Yale University, New Haven, CT, USA.
Lu Y Lu Yi Y Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Dinkler L Dinkler Lisa L Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Locked Bag 2000, Brisbane, QLD, 4029, Australia.
Bulik CM Bulik Cynthia M CM Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. cynthia_bulik@med.unc.edu.
INVESTIGATORS
JOURNAL
VOLUME: 25
ISSUE: 1
TITLE: BMC psychiatry
ISOABBREVIATION: BMC Psychiatry
YEAR: 2025
MONTH: May
DAY: 26
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1471-244X
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: BMC Psychiatry
COUNTRY: England
ISSNLINKING: 1471-244X
NLMUNIQUEID: 100968559
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136156 NIMH NIH HHS United States
R01MH136157 NIMH NIH HHS United States
R01MH136149 NIMH NIH HHS United States
GENERAL NOTE
KEYWORDS
KEYWORD
Anorexia nervosa
Avoidant/restrictive food intake disorder
Binge-eating disorder
Bulimia nervosa
Genome-wide association
Psychiatric genetics
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Humans
Feeding and Eating Disorders genetics
Case-Control Studies genetics
Female genetics
Genome-Wide Association Study genetics
Male genetics
Adult genetics
Phenotype genetics
Gene-Environment Interaction genetics
United States genetics
Australia genetics
Genotype genetics
Research Design genetics
Adolescent genetics
New Zealand genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's