The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol
Abstract 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 sever...
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2025-05-01
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| Online Access: | https://doi.org/10.1186/s12888-025-06777-5 |
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| author | Natasha Berthold Casey M. MacDermod Laura M. Thornton Richard Parker Shantal Anid Cortés Morales Liv Hog Hannah L. Kennedy Jerry Guintivano Patrick F. Sullivan James J. Crowley Jessica S. Johnson Andreas Birgegård Bengt T. Fundín Emma Frans Jiayi Xu Michaela Pettie “Ngāti Pūkenga” Allison L. Miller Mariana Valdez Aguilar Sarah Barakat Mohamed Abdulkadir Jennifer P. White Janne T. Larsen Elsie Trujillo Bertha Winterman Ruyue Zhang Rachel Lawson Stephen Wonderlich Joseph Wonderlich Lauren M. Schaefer Philip S. Mehler Judy Oakes Marina Foster Jennifer Gaudiani Eva Trujillo Chi Vacuán Emilio J. Compte Liselotte V. Petersen Zeynep Yilmaz Nadia Micali Jennifer Jordan Martin A. Kennedy Sarah Maguire Laura M. Huckins Yi Lu Lisa Dinkler Nicholas G. Martin Cynthia M. Bulik |
| author_facet | Natasha Berthold Casey M. MacDermod Laura M. Thornton Richard Parker Shantal Anid Cortés Morales Liv Hog Hannah L. Kennedy Jerry Guintivano Patrick F. Sullivan James J. Crowley Jessica S. Johnson Andreas Birgegård Bengt T. Fundín Emma Frans Jiayi Xu Michaela Pettie “Ngāti Pūkenga” Allison L. Miller Mariana Valdez Aguilar Sarah Barakat Mohamed Abdulkadir Jennifer P. White Janne T. Larsen Elsie Trujillo Bertha Winterman Ruyue Zhang Rachel Lawson Stephen Wonderlich Joseph Wonderlich Lauren M. Schaefer Philip S. Mehler Judy Oakes Marina Foster Jennifer Gaudiani Eva Trujillo Chi Vacuán Emilio J. Compte Liselotte V. Petersen Zeynep Yilmaz Nadia Micali Jennifer Jordan Martin A. Kennedy Sarah Maguire Laura M. Huckins Yi Lu Lisa Dinkler Nicholas G. Martin Cynthia M. Bulik |
| author_sort | Natasha Berthold |
| collection | DOAJ |
| description | Abstract 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 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 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 EDGI2 is a registered clinical trial: clinicaltrials.gov NCT06594913. https://clinicaltrials.gov/study/NCT06594913 (posted September 19, 2024). |
| format | Article |
| id | doaj-art-8eabe4ed29c7486d9da3757f4928d2a8 |
| institution | DOAJ |
| issn | 1471-244X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Psychiatry |
| spelling | doaj-art-8eabe4ed29c7486d9da3757f4928d2a82025-08-20T03:22:12ZengBMCBMC Psychiatry1471-244X2025-05-0125111610.1186/s12888-025-06777-5The Eating Disorders Genetics Initiative 2 (EDGI2): study protocolNatasha Berthold0Casey M. MacDermod1Laura M. Thornton2Richard Parker3Shantal Anid Cortés Morales4Liv Hog5Hannah L. Kennedy6Jerry Guintivano7Patrick F. Sullivan8James J. Crowley9Jessica S. Johnson10Andreas Birgegård11Bengt T. Fundín12Emma Frans13Jiayi Xu14Michaela Pettie “Ngāti Pūkenga”15Allison L. Miller16Mariana Valdez Aguilar17Sarah Barakat18Mohamed Abdulkadir19Jennifer P. White20Janne T. Larsen21Elsie Trujillo22Bertha Winterman23Ruyue Zhang24Rachel Lawson25Stephen Wonderlich26Joseph Wonderlich27Lauren M. Schaefer28Philip S. Mehler29Judy Oakes30Marina Foster31Jennifer Gaudiani32Eva Trujillo Chi Vacuán33Emilio J. Compte34Liselotte V. Petersen35Zeynep Yilmaz36Nadia Micali37Jennifer Jordan38Martin A. Kennedy39Sarah Maguire40Laura M. Huckins41Yi Lu42Lisa Dinkler43Nicholas G. Martin44Cynthia M. Bulik45Department of Psychiatry, University of North Carolina at Chapel HillDepartment of Psychiatry, University of North Carolina at Chapel HillDepartment of Psychiatry, University of North Carolina at Chapel HillQIMR Berghofer Medical Research Institute, Royal Brisbane HospitalResearch Department, Comenzar de NuevoDepartment of Medical Epidemiology and BiostatisticsDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Psychiatry, University of North Carolina at Chapel HillDepartment of Psychiatry, University of North Carolina at Chapel HillDepartment of Medical Epidemiology and BiostatisticsDepartment of Psychiatry, University of North Carolina at Chapel HillDepartment of Medical Epidemiology and BiostatisticsDepartment of Medical Epidemiology and BiostatisticsDepartment of Medical Epidemiology and BiostatisticsDivision of Molecular Psychiatry, Department of Psychiatry, Yale UniversityDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Psychiatry, University of North Carolina at Chapel HillInsideout Institute for Eating Disorders, The University of SydneyDepartment of Public Health, National Centre for Register-Based Research, Aarhus UniversityDepartment of Psychiatry, University of North Carolina at Chapel HillDepartment of Public Health, National Centre for Register-Based Research, Aarhus UniversityResearch Department, Comenzar de NuevoResearch Department, Comenzar de NuevoDepartment of Medical Epidemiology and BiostatisticsSouth Island Eating Disorders Service, Health NZ Te Whatu OraCenter for Biobehavioral Research, Sanford HealthCenter for Biobehavioral Research, Sanford HealthCenter for Biobehavioral Research, Sanford HealthACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital AuthorityACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital AuthorityACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital AuthorityGaudiani ClinicResearch Department, Comenzar de NuevoResearch Department, Comenzar de NuevoDepartment of Public Health, National Centre for Register-Based Research, Aarhus UniversityDepartment of Psychiatry, University of North Carolina at Chapel HillCenter for Eating and Feeding Disorders Research, Mental Health Services of the Capital Region of DenmarkDepartment of Psychological Medicine, University of OtagoTecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud – Insideout Institute for Eating Disorders, The University of SydneyDivision of Molecular Psychiatry, Department of Psychiatry, Yale UniversityDepartment of Medical Epidemiology and BiostatisticsDepartment of Medical Epidemiology and BiostatisticsQIMR Berghofer Medical Research Institute, Royal Brisbane HospitalDepartment of Psychiatry, University of North Carolina at Chapel HillAbstract 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 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 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 EDGI2 is a registered clinical trial: clinicaltrials.gov NCT06594913. https://clinicaltrials.gov/study/NCT06594913 (posted September 19, 2024).https://doi.org/10.1186/s12888-025-06777-5Anorexia nervosaBulimia nervosaBinge-eating disorderAvoidant/restrictive food intake disorderGenome-wide associationPsychiatric genetics |
| spellingShingle | Natasha Berthold Casey M. MacDermod Laura M. Thornton Richard Parker Shantal Anid Cortés Morales Liv Hog Hannah L. Kennedy Jerry Guintivano Patrick F. Sullivan James J. Crowley Jessica S. Johnson Andreas Birgegård Bengt T. Fundín Emma Frans Jiayi Xu Michaela Pettie “Ngāti Pūkenga” Allison L. Miller Mariana Valdez Aguilar Sarah Barakat Mohamed Abdulkadir Jennifer P. White Janne T. Larsen Elsie Trujillo Bertha Winterman Ruyue Zhang Rachel Lawson Stephen Wonderlich Joseph Wonderlich Lauren M. Schaefer Philip S. Mehler Judy Oakes Marina Foster Jennifer Gaudiani Eva Trujillo Chi Vacuán Emilio J. Compte Liselotte V. Petersen Zeynep Yilmaz Nadia Micali Jennifer Jordan Martin A. Kennedy Sarah Maguire Laura M. Huckins Yi Lu Lisa Dinkler Nicholas G. Martin Cynthia M. Bulik The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol BMC Psychiatry Anorexia nervosa Bulimia nervosa Binge-eating disorder Avoidant/restrictive food intake disorder Genome-wide association Psychiatric genetics |
| title | The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol |
| title_full | The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol |
| title_fullStr | The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol |
| title_full_unstemmed | The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol |
| title_short | The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol |
| title_sort | eating disorders genetics initiative 2 edgi2 study protocol |
| topic | Anorexia nervosa Bulimia nervosa Binge-eating disorder Avoidant/restrictive food intake disorder Genome-wide association Psychiatric genetics |
| url | https://doi.org/10.1186/s12888-025-06777-5 |
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