奥斯陆大学Ole A. Andreassen小组的最新研究提出了复杂神经和精神疾病共享遗传风险结构的全基因组分析。相关论文发表在2025年11月11日出版的《自然—神经科学》杂志上。

在这里，研究人员对全基因组关联研究数据进行了全面分析，涉及10种神经系统疾病和10种精神疾病的近100万例病例，以比较它们共同的遗传信号和生物学关联。利用互补的统计工具，该课题组研究人员证明，即使在没有遗传相关性的情况下，大量常见的遗传变异也会影响多种神经和精神疾病的风险。

此外，精神疾病的全基因组关联研究始终涉及神经元生物学，而神经系统疾病与多种神经生物学过程相关。总之，这项研究阐明了复杂的神经和精神疾病之间的遗传关系，表明遗传多效性的程度比以前认识到的要大。研究结果对疾病分类、精准医学和临床实践具有指导意义。

研究人员表示，尽管神经和精神疾病历来被认为反映了不同的致病实体，但最近的研究结果表明它们具有共同的病理生理机制。然而，这些遗传性疾病在多大程度上共享遗传影响仍不清楚。

附：英文原文

Title: A genome-wide analysis of the shared genetic risk architecture of complex neurological and psychiatric disorders

Author: Smeland, Olav B., Kutrolli, Gleda, Bahrami, Shahram, Fominykh, Vera, Parker, Nadine, Fuhrer, Julian, Hindley, Guy F. L., Rdevand, Linn, Jaholkowski, Piotr, Tesfaye, Markos, Parekh, Pravesh, Elvsshagen, Torbjrn, Grotzinger, Andrew D., Steen, Nils Eiel, van der Meer, Dennis, OConnell, Kevin S., Djurovic, Srdjan, Dale, Anders M., Shadrin, Alexey A., Frei, Oleksandr, Andreassen, Ole A.

Issue&Volume: 2025-11-11

Abstract: Although neurological and psychiatric disorders have historically been considered to reflect distinct pathogenic entities, recent findings suggest shared pathophysiological mechanisms. However, the extent to which these heritable disorders share genetic influences remains unclear. Here we performed a comprehensive analysis of genome-wide association study data, involving nearly 1 million cases across ten neurological diseases and ten psychiatric disorders, to compare their common genetic signal and biological associations. Using complementary statistical tools, we demonstrate that a large set of common genetic variants impacts the risk of multiple neurological and psychiatric disorders, even in the absence of genetic correlations. Furthermore, genome-wide association studies on psychiatric disorders consistently implicate neuronal biology, whereas neurological diseases are associated with diverse neurobiological processes. Together, this study elucidates the genetic relationship between complex neurological and psychiatric disorders, indicating a larger degree of genetic pleiotropy than previously recognized. The findings have implications for disease classification, precision medicine and clinical practice.

DOI: 10.1038/s41593-025-02090-2

Source: https://www.nature.com/articles/s41593-025-02090-2