Laura M Huckins, Rebecca Signer, Jessica Johnson, Ya-Ke Wu, Karen S Mitchell, Cynthia M Bulik
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引用次数: 0
摘要
通过大规模合作联盟的努力,我们在了解神经性厌食症(AN)和进食障碍(ED)遗传学方面取得了重大进展,首次发现了全基因组重要基因位点、AN 相关基因,并深入了解了这两种疾病的代谢-精神基础。然而,由于我们的研究重点过于狭窄,这些见解的可转化性、普遍性和影响范围都受到了阻碍。特别是,刻板印象、神话、假设和误解导致了对 ED 表现和轨迹的不完整或不正确理解,并将某些患者群体排除在我们的研究之外。在本综述中,我们旨在消除这些历史性的不平衡。我们以饮食失调学会(AED)的第 5 条真理 "饮食失调影响所有性别、年龄、种族、民族、体型和体重、性取向以及社会经济地位的人 "为出发点,讨论了我们对这些群体中每个人的 ED 遗传基础的了解和不了解,并提出了设计更具包容性研究的策略。在综述的后半部分,我们概述了广泛的战略目标,ED 研究人员可据此扩大研究的多样性、洞察力和临床转化能力。原文发表于《Mol Psychiatry 2022; 27:3929-3938》。
What Next for Eating Disorder Genetics? Replacing Myths With Facts to Sharpen Our Understanding.
Substantial progress has been made in the understanding of anorexia nervosa (AN) and eating disorder (ED) genetics through the efforts of large-scale collaborative consortia, yielding the first genome-wide significant loci, AN-associated genes, and insights into metabo-psychiatric underpinnings of the disorders. However, the translatability, generalizability, and reach of these insights are hampered by an overly narrow focus in our research. In particular, stereotypes, myths, assumptions and misconceptions have resulted in incomplete or incorrect understandings of ED presentations and trajectories, and exclusion of certain patient groups from our studies. In this review, we aim to counteract these historical imbalances. Taking as our starting point the Academy for Eating Disorders (AED) Truth #5 "Eating disorders affect people of all genders, ages, races, ethnicities, body shapes and weights, sexual orientations, and socioeconomic statuses", we discuss what we do and do not know about the genetic underpinnings of EDs among people in each of these groups, and suggest strategies to design more inclusive studies. In the second half of our review, we outline broad strategic goals whereby ED researchers can expand the diversity, insights, and clinical translatability of their studies. Appeared originally in Mol Psychiatry 2022; 27:3929-3938.