Department of Psychiatry, and National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital, Central South University, No 139 Renmin Road, Changsha, Hunan 410011, China; China National Technology Institute on Mental Disorders & Hunan Key Laboratory of Psychiatry and Mental Health, Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, China.
Psychiatry Res. 2022 Oct;316:114795. doi: 10.1016/j.psychres.2022.114795. Epub 2022 Aug 14.
Schizophrenia and hippocampal volume exhibit a genetic correlation, but the underlying genetic mechanisms remain unclear. Here, we investigated the shared genetic variants in schizophrenia and hippocampal volume using the largest genome-wide association studies (GWASs) data. We identified three genetic loci associated with both schizophrenia and hippocampal volume. Functional annotation analysis suggested that shared genetic variants play a major role via the regulatory effect on gene expression. Expression pattern analyses showed that candidate genes have a spatiotemporal and cell-specific expression pattern across human brain development. These findings provided deeper insights into the genetic mechanisms underlying hippocampus and schizophrenia risk.
精神分裂症和海马体体积表现出遗传相关性，但潜在的遗传机制仍不清楚。在这里，我们使用最大的全基因组关联研究（GWAS）数据研究了精神分裂症和海马体体积的共同遗传变异。我们确定了三个与精神分裂症和海马体体积都相关的遗传位点。功能注释分析表明，共享的遗传变异主要通过对基因表达的调控作用发挥作用。表达模式分析表明，候选基因在人类大脑发育过程中具有时空和细胞特异性的表达模式。这些发现为深入了解海马体和精神分裂症风险的遗传机制提供了依据。
