Guo Xinpeng, Guo Junrong, Liu Xijing, Hu Ting
Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
West China School of Medicine, Sichuan University, Chengdu, Sichuan, China.
Front Genet. 2025 Jul 28;16:1612654. doi: 10.3389/fgene.2025.1612654. eCollection 2025.
Schizophrenia is a complex neuropsychiatric disorder closely associated with genetic factors. Copy number variations (CNVs) play a key role in the genetic etiology of schizophrenia, with the distal 1q21.1 microdeletion identified as a rare CNV that serves as a significant genetic risk factor for the disorder. This microdeletion is found in 0.2%-0.6% of individuals with schizophrenia and is associated with an eightfold increased risk of developing the condition. The distal 1q21.1 region contains several schizophrenia risk genes, including , , , , and . This review focuses on the roles of these five genes in brain function and explores their potential pathophysiological mechanisms in schizophrenia. By synthesizing current evidence, this review aims to deepen the understanding of schizophrenia by outlining its genetic architecture and molecular mechanisms, thereby providing a comprehensive framework for exploring disease pathogenesis.
精神分裂症是一种与遗传因素密切相关的复杂神经精神疾病。拷贝数变异（CNV）在精神分裂症的遗传病因中起关键作用，1q21.1远端微缺失被确定为一种罕见的CNV，是该疾病的重要遗传危险因素。在0.2%-0.6%的精神分裂症患者中发现了这种微缺失，其患该病的风险增加了八倍。1q21.1远端区域包含几个精神分裂症风险基因，包括 、 、 、 和 。本综述重点关注这五个基因在脑功能中的作用，并探讨它们在精神分裂症中的潜在病理生理机制。通过综合现有证据，本综述旨在通过概述其遗传结构和分子机制来加深对精神分裂症的理解，从而为探索疾病发病机制提供一个全面的框架。
