期刊
ISCIENCE
卷 24, 期 8, 页码 -出版社
CELL PRESS
DOI: 10.1016/j.isci.2021.102894
关键词
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资金
- National High-tech Research and Development Program of China [2012AA02A515]
- National Key Technology RD Program [2012BAI01B09]
- National Natural Science Foundation of China [81773818, 81273596, 30900799, 31701086]
- National Key Research and Development Program [2017YFC0909303, 2016YFC0905002, 2016YFC1200200]
- Shanghai Key Laboratory of Psychotic Disorders [13dz2260500]
The study found that patients with schizophrenia in Chinese families carried more duplications compared to healthy family members and controls, and identified new CNV loci associated with schizophrenia. Two genes within these CNVs showed significant relevance to schizophrenia, supporting the role of CNVs in schizophrenia etiology and providing new insights into the pathogenesis of schizophrenia.
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.
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