Berthold Natasha, MacDermod Casey M, Thornton Laura M, Parker Richard, Morales Shantal Anid Cortés, Hog Liv, Kennedy Hannah L, Guintivano Jerry, Sullivan Patrick F, Crowley James J, Johnson Jessica S, Birgegård Andreas, Fundín Bengt T, Frans Emma, Xu Jiayi, Ngāti Pūkenga Michaela Pettie, Miller Allison L, Aguilar Mariana Valdez, Barakat Sarah, Abdulkadir Mohamed, White Jennifer P, Larsen Janne T, Trujillo Elsie, Winterman Bertha, Zhang Ruyue, Lawson Rachel, Wonderlich Stephen, Wonderlich Joseph, Schaefer Lauren M, Mehler Philip S, Oakes Judy, Foster Marina, Gaudiani Jennifer, Vacuán Eva Trujillo Chi, Compte Emilio J, Petersen Liselotte V, Yilmaz Zeynep, Micali Nadia, Jordan Jennifer, Kennedy Martin A, Maguire Sarah, Huckins Laura M, Lu Yi, Dinkler Lisa, Martin Nicholas G, Bulik Cynthia M
Department of Psychiatry, University of North Carolina at Chapel Hill, #7160, 101 Manning Drive, Chapel Hill, CBNC, 27599 - 7160, USA.
School of Human Sciences, University of Western Australia, Crawley, WA, 6009, Australia.
BMC Psychiatry. 2025 May 26;25(1):532. doi: 10.1186/s12888-025-06777-5.
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).
饮食失调遗传学倡议2（EDGI2）旨在探索基因和环境在神经性厌食症、神经性贪食症、暴饮暴食症以及回避/限制性食物摄入障碍（ARFID）中的作用，重点关注广泛的人群代表性以及严重和/或长期存在的疾病。
将从美国（US）、墨西哥（MX）、澳大利亚（AU）、新西兰（NZ）、瑞典（SE）和丹麦（DK）确定总共20,000名新参与者（18,700例病例和1,300名对照）。将使用EDGI2问卷组和参与者唾液样本对美国、墨西哥、澳大利亚、新西兰和瑞典的参与者进行全面的表型分析和基因分型。在丹麦，病例识别和基因分型将通过国家患者登记册和出生时存档的血斑进行。将在EDGI2内进行病例对照和病例病例全基因组关联研究，并通过与精神基因组学联盟饮食失调工作组（PGC-ED）的外部数据进行荟萃分析来加强。额外的分析将探索饮食失调（EDs）与其他精神和代谢特征之间的遗传相关性，计算多基因风险评分（PRS），并利用功能生物学来评估临床结果。此外，分析PRS以进行患者分层并将确定的风险位点与临床相关表型联系起来，突出了EDGI2在临床转化方面的潜力。
EDGI2是EDGI研究的全球扩展，以增加样本量，增加多个祖先背景的参与者代表性，并纳入ARFID。饮食失调遗传学研究在历史上一直落后于其他精神疾病，而EDGI2旨在迅速推进主要饮食失调症遗传学的研究。在诊断水平和症状水平探索饮食失调将以前所未有的方式揭示饮食失调背后的遗传结构。
EDGI2是一项注册临床试验：clinicaltrials.gov NCT06594913。https://clinicaltrials.gov/study/NCT06594913（2024年9月19日发布）
