Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Int J Mol Sci. 2023 Sep 5;24(18):13671. doi: 10.3390/ijms241813671.
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved. Previous studies mainly investigated genome-wide significant SNPs to elucidate the cross-disorder and disorder-specific genetic basis of neuropsychiatric disorders. Although copy number variations represent a major source of genetic variations, they are known risk factors in developing a variety of human disorders, including certain neuropsychiatric diseases. In this review, we demonstrate the current understanding of CNVs contributing to liability for schizophrenia, bipolar disorder, and major depressive disorder.
神经精神疾病是一种复杂的疾病，其病因复杂且具有多因素性，是全球范围内的重大健康负担。近年来，技术的进步提高了我们对主要神经精神疾病遗传结构以及相关遗传位点的理解。先前的研究主要针对全基因组显著 SNP 进行调查，以阐明神经精神疾病的跨疾病和疾病特异性遗传基础。尽管拷贝数变异是遗传变异的主要来源，但它们是多种人类疾病（包括某些神经精神疾病）的已知风险因素。在这篇综述中，我们展示了目前对导致精神分裂症、双相情感障碍和重度抑郁症易感性的 CNVs 的认识。
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