Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Mol Psychiatry. 2022 Oct;27(10):3929-3938. doi: 10.1038/s41380-022-01601-y. Epub 2022 May 20.
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.
通过大型合作联盟的努力,人们对神经性厌食症 (AN) 和饮食失调 (ED) 的遗传学有了深入的了解,取得了第一个全基因组显著位点、与 AN 相关的基因,并深入了解了这些疾病的代谢-精神基础。然而,由于我们的研究过于狭隘,这些见解的可转化性、普遍性和影响力受到了阻碍。特别是,刻板印象、神话、假设和误解导致了对 ED 表现和轨迹的理解不完整或不正确,并将某些患者群体排除在我们的研究之外。在这篇综述中,我们旨在纠正这些历史上的不平衡。以饮食失调学会 (AED) 的真理 #5“饮食失调影响所有性别、年龄、种族、族裔、体型和体重、性取向和社会经济地位的人”为出发点,我们讨论了我们对这些人群中 ED 的遗传基础的了解程度,以及设计更具包容性的研究的策略。在综述的后半部分,我们概述了广泛的战略目标,即 ED 研究人员可以通过这些目标来扩大他们研究的多样性、深入程度和临床可转化性。