Methylation Risk Scores in Psychiatric Disorders: Advancing Epigenetic Research in Mental Health.

IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL
JMA journal Pub Date : 2025-04-28 Epub Date: 2025-02-28 DOI:10.31662/jmaj.2024-0329
Kazutaka Ohi, Daisuke Fujikane, Kentaro Takai, Ayumi Kuramitsu, Yukimasa Muto, Shunsuke Sugiyama, Toshiki Shioiri
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Abstract

DNA methylation is an epigenetic modification implicated in psychiatric disorders influenced by both genetic and environmental factors. Methylation risk scores (MRSs) have emerged as a tool for quantifying accumulated epigenetic modifications and assessing the predisposed risk for certain common disorders. This narrative review introduces the MRS application in psychiatric disorders, including schizophrenia (SCZ), bipolar disorder (BD), social anxiety disorder (SAD), and panic disorder (PD), while also discussing the current limitations and ethical considerations in psychiatric research. MRSs are calculated from epigenome-wide association studies (EWASs) for psychiatric disorders in various tissues from blood and brain and reflect methylation patterns associated with the psychiatric disorder risk. MRSs provide a perspective of how the cumulative methylation patterns at specific CpG sites may contribute to the onset of psychiatric disorders. In SCZ and BD, MRSs derived from both blood and brain tissues have shown distinct methylation profiles that differentiate these disorders, particularly in patients with a high genetic SCZ risk. MRSs are also used to assess the impact of environmental factors, such as early-life adversity and chronic stress, on psychiatric outcomes. In SAD and PD, where epigenetic studies are relatively limited, MRSs revealed both shared and distinct epigenetic features between anxiety disorders, with specific methylation changes associated with social avoidance in SAD patients. MRSs can serve as biomarkers, providing a valuable understanding of both genetic predispositions and environmental influences on gene regulation. However, the lack of large-scale EWAS datasets and standardized summary statistics remains as a limitation. To address this issue, this review provides a list of publicly available raw intensity data (IDAT) files from psychiatric epigenetic studies that can help facilitate future research by providing the raw data necessary for conducting independent EWASs and MRS calculations. As the field advances, careful consideration must be given to the ethical implications of MRS applications, particularly in clinical intervention and prevention. While MRSs hold promise for future personalized medicine applications, informing treatment decisions based on an individual's methylation profile, caution is warranted regarding their predictive utility and effect size limitations. This review emphasizes the importance of MRSs in advancing psychiatric research, bridging the gap between genetic risk and environmental factors.

精神疾病的甲基化风险评分:心理健康的表观遗传学研究进展。
DNA甲基化是一种表观遗传修饰,涉及受遗传和环境因素影响的精神疾病。甲基化风险评分(MRSs)已成为量化累积表观遗传修饰和评估某些常见疾病易感风险的工具。本文介绍了MRS在精神疾病中的应用,包括精神分裂症(SCZ)、双相情感障碍(BD)、社交焦虑障碍(SAD)和恐慌障碍(PD),同时也讨论了目前精神病学研究的局限性和伦理考虑。MRSs是根据来自血液和大脑的各种组织的精神疾病的表观基因组关联研究(EWASs)计算出来的,反映了与精神疾病风险相关的甲基化模式。MRSs提供了一个视角,说明特定CpG位点的累积甲基化模式如何有助于精神疾病的发病。在SCZ和BD中,来自血液和脑组织的MRSs显示出区分这些疾病的不同甲基化谱,特别是在具有高遗传SCZ风险的患者中。MRSs也被用来评估环境因素对精神结果的影响,比如早年的逆境和慢性压力。在表观遗传学研究相对有限的SAD和PD中,MRSs揭示了焦虑症之间共同的和独特的表观遗传学特征,SAD患者的特定甲基化变化与社交回避相关。MRSs可以作为生物标志物,为遗传倾向和环境对基因调控的影响提供有价值的理解。然而,缺乏大规模的EWAS数据集和标准化的汇总统计仍然是一个限制。为了解决这个问题,本综述提供了一份来自精神病学表观遗传学研究的公开可用的原始强度数据(IDAT)文件列表,通过提供进行独立EWASs和MRS计算所需的原始数据,可以帮助促进未来的研究。随着该领域的发展,必须仔细考虑MRS应用的伦理影响,特别是在临床干预和预防方面。虽然mrs有望在未来的个性化医疗应用中发挥作用,根据个体的甲基化谱为治疗决策提供信息,但对其预测效用和效应大小的限制仍需谨慎。这篇综述强调了MRSs在推进精神病学研究中的重要性,弥合了遗传风险和环境因素之间的差距。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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