International Journal of Molecular Sciences (Sep 2023)

Copy Number Variations in Neuropsychiatric Disorders

  • Gergely Büki,
  • Kinga Hadzsiev,
  • Judit Bene

DOI
https://doi.org/10.3390/ijms241813671
Journal volume & issue
Vol. 24, no. 18
p. 13671

Abstract

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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.

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