PENG Wen-Zhu1, CHEN Qi1, XUE Min-Yue1, 2, SUN Dai-Jing1, JIANG Yan1, △
Neuropsychiatric disorders impact the lives of tens of millions of people globally and have become an increasingly severe social problem. Genetics is one of the critical factors contributing to the etiology of neuropsychiatric disorders. However, disease-associated risk loci, identified by genome-wide association studies (GWAS), are primarily located in non-coding regions of the human genome, presenting one of the most significant challenges in identifying disease-associated
risk genes and elucidating the pathogenesis. Three-dimensional (3D) genomics focuses on spatial chromatin architecture and long-distance chromatin interactions. The development and application of 3D genomic technologies contribute to the identification of disease-associated risk genes, providing direct evidence of the chromatin interactions between disease-associated risk loci and their target genes. Meanwhile, cell-type-specific interactions bring new insights into the
comprehension of pathogenesis. Lastly, the reorganization of spatial chromatin architectures regulates the transcription of multiple genes collectively, which may explain the complexity and heterogeneity of neuropsychiatric disorders. Based on a brief introduction to the basic concepts and applications of 3D genomics, this review primarily discusses the research progress of 3D genomics in the field of neuropsychiatric disorders, including schizophrenia (SCZ), Alzheimer's disease
(AD), autism spectrum disorder (ASD), and others, aiming to offer new perspectives on associated diseases pathogenesis.
