Owen Michael J, Bray Nicholas J, Walters James T R, O'Donovan Michael C
Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Nat Rev Genet. 2025 May 12. doi: 10.1038/s41576-025-00843-0.
Schizophrenia, bipolar disorder and major depressive disorder - which are the most common adult disorders requiring psychiatric care - contribute substantially to premature mortality and morbidity globally. Treatments for these disorders are suboptimal, there are no diagnostic pathologies or biomarkers and their pathophysiologies are poorly understood. Novel therapeutic and diagnostic approaches are thus badly needed. Given the high heritability of psychiatric disorders, psychiatry has potentially much to gain from the application of genomics to identify molecular risk mechanisms and to improve diagnosis. Recent large-scale, genome-wide association studies and sequencing studies, together with advances in functional genomics, have begun to illuminate the genetic architectures of schizophrenia, bipolar disorder and major depressive disorder and to identify potential biological mechanisms. Genomic findings also point to the aetiological relationships between different diagnoses and to the relationships between adult psychiatric disorders and childhood neurodevelopmental conditions.
精神分裂症、双相情感障碍和重度抑郁症——这些是最常见的需要精神科护理的成人疾病——在全球范围内对过早死亡和发病有很大影响。这些疾病的治疗效果欠佳，没有诊断病理学或生物标志物，其病理生理学也知之甚少。因此，急需新的治疗和诊断方法。鉴于精神疾病的高遗传性，精神病学有望通过应用基因组学来识别分子风险机制并改善诊断而大有收获。最近的大规模全基因组关联研究和测序研究，以及功能基因组学的进展，已经开始阐明精神分裂症、双相情感障碍和重度抑郁症的遗传结构，并确定潜在的生物学机制。基因组学研究结果还指出了不同诊断之间的病因关系，以及成人精神疾病与儿童神经发育状况之间的关系。
