Centre for Mental Health, Faculty of Health, Arts & Design, Swinburne University of Technology, Hawthorn, VIC, Australia.
Centre for Mental Health, Faculty of Health, Arts & Design, Swinburne University of Technology, Hawthorn, VIC, Australia; Department of Mental Health, St Vincent's Hospital, Melbourne, Australia; Department of Psychiatry, The University of Melbourne, Melbourne, Australia; Department of Mental Health, Austin Health, Melbourne, Australia.
J Psychiatr Res. 2021 May;137:303-310. doi: 10.1016/j.jpsychires.2021.02.063. Epub 2021 Mar 6.
There are currently no validated biomarkers for anorexia nervosa (AN), though recent literature suggests an increased research interest in this area. Biomarkers are objective, measurable indicators of illness that can be used to assist with diagnosis, risk assessment, and tracking of illness state. Related to biomarkers are endophenotypes, which are quantifiable phenomena that are distinct from symptoms and which link genes to manifest illness. In this scoping review, we sought to provide a summary of recent research conducted in the pursuit of biomarkers and endophenotypes for AN. The findings indicate that a number of possible biomarkers which can assess the presence or severity of AN independently of weight status, including psychophysical (e.g., eye-tracking) and biological (e.g., immune, endocrine, metabolomic, neurobiological) markers, are currently under investigation. However, this research is still in early phases and lacking in replication studies. Endophenotype research has largely been confined to the study of several neurocognitive features, with mixed evidence to support their classification as possible endophenotypes for the disorder. The study of biomarkers and endophenotypes in AN involves significant challenges due to confounding factors of illness-related sequalae, such as starvation. Future research in these areas must prioritise direct evaluation of the sensitivity, specificity and test-retest reliability of proposed biomarkers and enhanced control of confounding physical consequences of AN in the study of biomarkers and endophenotypes.
目前尚无厌食症（AN）的有效生物标志物，尽管最近的文献表明人们对此领域的研究兴趣日益浓厚。生物标志物是疾病的客观、可测量的指标，可用于辅助诊断、风险评估和疾病状态的跟踪。与生物标志物相关的还有表型，它是与症状不同的可量化现象，将基因与明显的疾病联系起来。在本次范围界定综述中，我们旨在概述目前为寻找厌食症的生物标志物和表型而进行的研究。研究结果表明，目前正在研究一些可能的生物标志物，这些标志物可以独立于体重状况评估 AN 的存在或严重程度，包括心理物理学（例如，眼动追踪）和生物学标志物（例如，免疫、内分泌、代谢组学、神经生物学）。然而，这项研究仍处于早期阶段，缺乏复制研究。表型研究主要局限于对几种神经认知特征的研究，有一些混合证据支持将其作为该疾病的可能表型。由于与饥饿等与疾病相关的后遗症相关的混杂因素，厌食症的生物标志物和表型研究存在重大挑战。这些领域的未来研究必须优先考虑对拟议生物标志物的敏感性、特异性和重测可靠性进行直接评估，并在生物标志物和表型研究中更好地控制厌食症的混杂生理后果。
