Yang Haidong, Sun Wenxi, Li Jin, Zhang Xiaobin
Department of Psychiatry, The Fourth People's Hospital of Lianyungang, The Affiliated KangDa College of Nanjing Medical University, Lianyungang, 222003, People's Republic of China.
Institute of Mental Health, Suzhou Psychiatric Hospital, The Affiliated Guangji Hospital of Soochow University, Suzhou, 215137, People's Republic of China.
Ann Gen Psychiatry. 2025 Apr 4;24(1):21. doi: 10.1186/s12991-025-00557-x.
Schizophrenia is a complex, heterogeneous, and highly disabling severe mental disorder whose pathogenesis has not yet been fully elucidated. Epigenetics, as a bridge between genetic and environmental factors, plays an important role in the pathophysiology of schizophrenia. Over the past decade, epigenetic-wide association studies have rapidly become an important branch of psychiatric research, especially in deciphering the molecular mechanisms of schizophrenia. This review systematically analyzes recent advances in epigenome-wide association studies (EWAS) of schizophrenia, focusing on technological developments. We synthesize findings from large-scale EWAS alongside emerging evidence on DNA methylation patterns, histone modifications, and regulatory networks, emphasizing their roles in disease mechanisms and treatment responses. In addition, this review provides a prospective outlook, evaluating the impact that technological developments may have on future studies of schizophrenia. With the continuous advancement of high-throughput sequencing technology and the increasing maturity of big data analysis methods, epigenetics is expected to have a significant impact on the early diagnosis, prognosis assessment and even personalized treatment of schizophrenia.
精神分裂症是一种复杂、异质性且严重致残的重度精神障碍，其发病机制尚未完全阐明。表观遗传学作为遗传因素和环境因素之间的桥梁，在精神分裂症的病理生理学中发挥着重要作用。在过去十年中，全表观基因组关联研究迅速成为精神病学研究的一个重要分支，尤其是在解读精神分裂症的分子机制方面。本综述系统分析了精神分裂症全表观基因组关联研究（EWAS）的最新进展，重点关注技术发展。我们综合了大规模EWAS的研究结果以及关于DNA甲基化模式、组蛋白修饰和调控网络的新证据，强调它们在疾病机制和治疗反应中的作用。此外，本综述提供了前瞻性展望，评估技术发展可能对未来精神分裂症研究产生的影响。随着高通量测序技术的不断进步和大数据分析方法的日益成熟，表观遗传学有望对精神分裂症的早期诊断、预后评估乃至个性化治疗产生重大影响。
