Wu Xi, Huai Cong, Shen Lu, Li Mo, Yang Chao, Zhang Juan, Chen Luan, Zhu Wenli, Fan Lingzi, Zhou Wei, Xing Qinghe, He Lin, Wan Chunling, Qin Shengying
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, 200030, China.
The Fourth People's Hospital of Wuhu, Wuhu, Anhui, 241000, China.
iScience. 2021 Jul 22;24(8):102894. doi: 10.1016/j.isci.2021.102894. eCollection 2021 Aug 20.
Schizophrenia (SCZ) is a severe neuropsychiatric disorder that affects 1% of the global population. Copy number variations (CNVs) have been shown to play a critical role in its pathophysiology; however, only case-control studies on SCZ susceptibility CNVs have been conducted in Han Chinese. Here, we performed an array comparative genomic hybridization-based genome-wide CNV analysis in 100 Chinese family trios with SCZ. Burden test suggested that the SCZ probands carried more duplications than their healthy parents and unrelated healthy controls. Besides, five CNV loci were firstly reported to be associated with SCZ here, including both unbalanced transmitted CNVs and enriched CNVs. Moreover, two genes ( and ) in these CNVs showed significant SCZ relevance in the expression level. Our findings support the crucial role of CNVs in the etiology of SCZ and provide new insights into the underlying mechanism of SCZ pathogenesis.
精神分裂症（SCZ）是一种严重的神经精神疾病，影响着全球1%的人口。拷贝数变异（CNV）已被证明在其病理生理学中起关键作用；然而，仅在中国汉族人群中开展了关于SCZ易感性CNV的病例对照研究。在此，我们对100个患有SCZ的中国家系三联体进行了基于阵列比较基因组杂交的全基因组CNV分析。负荷检验表明，SCZ先证者携带的重复序列比其健康父母及无关健康对照更多。此外，本文首次报道了5个与SCZ相关的CNV位点，包括不平衡传递的CNV和富集的CNV。而且，这些CNV中的两个基因在表达水平上显示出与SCZ显著相关。我们的研究结果支持了CNV在SCZ病因学中的关键作用，并为SCZ发病机制的潜在机制提供了新的见解。
