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Updated: Aug 12, 2025

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Third-generation genome sequencing implicates medium-sized structural variants in chronic schizophrenia.

Chi Chiu Lee1, Rui Ye2, Justin D Tubbs2

  • 1Department of Psychiatry, Kwai Chung Hospital, Hong Kong, Hong Kong SAR, China.

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|January 30, 2023
PubMed
Summary
This summary is machine-generated.

Medium-sized structural variants (SVs) detected by third-generation sequencing may explain missing heritability in schizophrenia (SCZ). This study identified 88 SVs in 79 genes associated with SCZ, implicating novel hearing and adolescent striatum pathways.

Keywords:
biological pathwayschronic and negative symptomsintronicmultiplex familiesschizophreniastriatumstructural variantsthird generation sequencing

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Area of Science:

  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Schizophrenia (SCZ) is a complex psychiatric disorder with significant genetic underpinnings, yet a considerable portion of its heritability remains unexplained.
  • Previous genetic studies, including Genome Wide Association Studies (GWAS) and exome sequencing, have identified single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) but have not fully accounted for the genetic contribution.
  • Medium-sized structural variants (SVs) are challenging to detect with existing technologies and may represent a significant source of missing heritability in SCZ.

Purpose of the Study:

  • To identify whole-genome structural variants (SVs) associated with severe chronic schizophrenia (SCZ).
  • To investigate the role of medium-sized SVs in the genetic etiology of SCZ.
  • To explore potential biological pathways implicated by identified SVs.

Main Methods:

  • Employed third-generation sequencing on peripheral blood samples from 10 multiplex families with probands diagnosed with chronic SCZ.
  • Utilized bioinformatic tools to detect SVs from long sequencing reads.
  • Confirmed identified SVs through short-read sequencing, Sanger sequencing, and manual visual validation.

Main Results:

  • Identified and validated 88 medium-sized SVs, primarily in introns, within 79 genes in SCZ probands, which were absent in unaffected controls.
  • Found enrichment of these 79 genes in 20 biological pathways, including those related to brain development, neuronal function, learning, memory, and hearing.
  • Observed enrichment of identified SVs in genes highly expressed in the adolescent striatum.

Conclusions:

  • Medium-sized SVs, detectable by third-generation sequencing, likely contribute significantly to the missing heritability in SCZ.
  • The identified SVs implicate novel genes and pathways, including those involved in hearing and adolescent striatal function, expanding our understanding of SCZ pathophysiology.
  • This study highlights the importance of advanced sequencing technologies for uncovering complex genetic factors in psychiatric disorders like SCZ.