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PMID |
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TITLE |
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The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol. |
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ABSTRACT |
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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). |
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DATE PUBLISHED |
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HISTORY |
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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 |
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AUTHORS |
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NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
Berthold N |
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Berthold |
Natasha |
N |
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Perron Research Institute, Nedlands, WA, 6009, Australia. |
MacDermod CM |
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MacDermod |
Casey M |
CM |
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Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA. |
Thornton LM |
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Thornton |
Laura M |
LM |
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Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA. |
Parker R |
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Parker |
Richard |
R |
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QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Locked Bag 2000, Brisbane, QLD, 4029, Australia. |
Morales SAC |
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Morales |
Shantal Anid Cortés |
SAC |
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Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud - , Monterrey, Mexico. |
Hog L |
|
Hog |
Liv |
L |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Kennedy HL |
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Kennedy |
Hannah L |
HL |
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Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. |
Guintivano J |
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Guintivano |
Jerry |
J |
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Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA. |
Sullivan PF |
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Sullivan |
Patrick F |
PF |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Crowley JJ |
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Crowley |
James J |
JJ |
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Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. |
Johnson JS |
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Johnson |
Jessica S |
JS |
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Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA. |
Birgegård A |
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Birgegård |
Andreas |
A |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Fundín BT |
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Fundín |
Bengt T |
BT |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Frans E |
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Frans |
Emma |
E |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Xu J |
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Xu |
Jiayi |
J |
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Division of Molecular Psychiatry, Department of Psychiatry, Yale University, New Haven, CT, USA. |
Ngāti Pūkenga MP |
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Ngāti Pūkenga |
Michaela Pettie |
MP |
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Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. |
Miller AL |
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Miller |
Allison L |
AL |
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Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. |
Aguilar MV |
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Aguilar |
Mariana Valdez |
MV |
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Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA. |
Barakat S |
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Barakat |
Sarah |
S |
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Insideout Institute for Eating Disorders, The University of Sydney, Sydney, Australia. |
Abdulkadir M |
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Abdulkadir |
Mohamed |
M |
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Department of Public Health, National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark. |
White JP |
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White |
Jennifer P |
JP |
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Department of Psychology, University of Albany, State University of New York, Albany, NY, USA. |
Larsen JT |
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Larsen |
Janne T |
JT |
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Department of Public Health, National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark. |
Trujillo E |
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Trujillo |
Elsie |
E |
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Research Department, Comenzar de Nuevo, Monterrey, Mexico. |
Winterman B |
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Winterman |
Bertha |
B |
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Research Department, Comenzar de Nuevo, Monterrey, Mexico. |
Zhang R |
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Zhang |
Ruyue |
R |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Lawson R |
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Lawson |
Rachel |
R |
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South Island Eating Disorders Service, Health NZ Te Whatu Ora, Christchurch, New Zealand. |
Wonderlich S |
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Wonderlich |
Stephen |
S |
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Department of Psychiatry and Behavioral Science, University of North Dakota School of Medicine and Health Sciences, Fargo, ND, USA. |
Wonderlich J |
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Wonderlich |
Joseph |
J |
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Center for Biobehavioral Research, Sanford Health, Fargo, ND, USA. |
Schaefer LM |
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Schaefer |
Lauren M |
LM |
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Center for Biobehavioral Research, Sanford Health, Fargo, ND, USA. |
Mehler PS |
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Mehler |
Philip S |
PS |
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ACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital Authority, Denver, CO, USA. |
Oakes J |
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Oakes |
Judy |
J |
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ACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital Authority, Denver, CO, USA. |
Foster M |
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Foster |
Marina |
M |
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ACUTE Center for Eating Disorders and Severe Malnutrition, Denver Health and Hospital Authority, Denver, CO, USA. |
Gaudiani J |
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Gaudiani |
Jennifer |
J |
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Gaudiani Clinic, Denver, CO, USA. |
Vacuán ETC |
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Vacuán |
Eva Trujillo Chi |
ETC |
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Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud - , Monterrey, Mexico. |
Compte EJ |
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Compte |
Emilio J |
EJ |
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Eating Behavior Research Center, School of Psychology, Universidad Adolfo Ibáñez, Santiago, Chile. |
Petersen LV |
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Petersen |
Liselotte V |
LV |
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Department of Public Health, National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark. |
Yilmaz Z |
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Yilmaz |
Zeynep |
Z |
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Department of Biomedicine, Aarhus University, Aarhus, Denmark. |
Micali N |
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Micali |
Nadia |
N |
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Great Ormond Street Institute of Child Health, University College London, London, UK. |
Jordan J |
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Jordan |
Jennifer |
J |
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Health NZ - Te Whatu Ora, Christchurch, New Zealand. |
Kennedy MA |
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Kennedy |
Martin A |
MA |
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Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud - , Monterrey, Mexico. |
Maguire S |
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Maguire |
Sarah |
S |
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Faculty of Medicine and Health, University of Sydney, Sydney, Australia. |
Huckins LM |
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Huckins |
Laura M |
LM |
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Division of Molecular Psychiatry, Department of Psychiatry, Yale University, New Haven, CT, USA. |
Lu Y |
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Lu |
Yi |
Y |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Dinkler L |
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Dinkler |
Lisa |
L |
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Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden. |
Martin NG |
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Martin |
Nicholas G |
NG |
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QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Locked Bag 2000, Brisbane, QLD, 4029, Australia. |
Bulik CM |
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Bulik |
Cynthia M |
CM |
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Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. cynthia_bulik@med.unc.edu. |
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INVESTIGATORS |
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JOURNAL |
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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 |
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MEDLINE JOURNAL |
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MEDLINETA: BMC Psychiatry |
COUNTRY: England |
ISSNLINKING: 1471-244X |
NLMUNIQUEID: 100968559 |
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PUBLICATION TYPE |
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PUBLICATIONTYPE TEXT |
Journal Article |
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COMMENTS AND CORRECTIONS |
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GRANTS |
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GRANTID |
AGENCY |
COUNTRY |
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R01MH136156 |
NIMH NIH HHS |
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R01MH136156 |
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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 |
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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 |
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GENERAL NOTE |
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KEYWORDS |
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KEYWORD |
Anorexia nervosa |
Avoidant/restrictive food intake disorder |
Binge-eating disorder |
Bulimia nervosa |
Genome-wide association |
Psychiatric genetics |
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MESH HEADINGS |
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DESCRIPTORNAME |
QUALIFIERNAME |
Humans |
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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 |
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SUPPLEMENTARY MESH |
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GENE SYMBOLS |
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CHEMICALS |
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OTHER ID's |
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