Genome-wide study of copy number variation implicates multiple novel loci for schizophrenia risk in Han Chinese family trios

作者：Xi Wu, Cong Huai, Lu Shen, Mo Li, Chao Yang, Juan Zhang, Luan Chen, Wenli Zhu, Lingzi Fan, Wei Zhou, Qinghe Xing, Lin He, Chunling Wan, Shengying Qin · 发表于：iScience · 年份：2021 · DOI：10.1016/j.isci.2021.102894 · 被引用次数：5 · 研究领域：Genomic variations and chromosomal abnormalities、Chromosomal and Genetic Variations、Genomics and Rare Diseases

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 de novo CNVs. Moreover, two genes ( CTDSPL and MGAM ) 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.