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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Psychological and Sociocultural Causes of Schizophrenia01:29

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Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
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Negative and Cognitive Symptoms of Schizophrenia01:30

Negative and Cognitive Symptoms of Schizophrenia

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Negative symptoms of schizophrenia indicate a reduction or absence of typical behaviors and emotional responses found in healthy individuals, while positive symptoms reflect an excess or distortion of normal functioning.
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Updated: Jul 12, 2025

Derivation, Expansion, Cryopreservation and Characterization of Brain Microvascular Endothelial Cells from Human Induced Pluripotent Stem Cells
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Copy Number Variants Increasing Risk for Schizophrenia: Shared and Distinct Effects on Brain Morphometry and

Xavier Caseras1, Sophie E Legge1, Matthew Bracher-Smith1

  • 1Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, Wales, United Kingdom.

Biological Psychiatry Global Open Science
|October 26, 2023
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) linked to mental disorders impact brain structure and cognition differently. Even with shared psychiatric risks, distinct neurobiological pathways explain varied effects on brain morphometry and cognitive performance.

Keywords:
Brain morphometryCognitionCopy number variationRare variantsSchizophrenia

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Copy number variations (CNVs) are linked to mental disorders, brain changes, and cognitive deficits.
  • It remains unclear if these effects are shared or distinct across different CNVs.
  • This study investigates shared versus distinct effects of CNVs with common psychiatric liability on brain and cognition.

Purpose of the Study:

  • To compare the effects of different copy number variations (CNVs) on brain morphometry.
  • To assess the impact of CNVs on cognitive performance.
  • To determine if these effects are shared or distinct among CNVs with similar psychiatric liability.

Main Methods:

  • Analysis of UK Biobank participants (31,941 without damaging CNVs, 202 with schizophrenia-risk CNVs).
  • Regression analyses to associate brain morphometry and cognitive performance with CNV status.
  • Comparison of effect sizes across CNVs and mediation analysis using equation modeling.

Main Results:

  • Different patterns of association were found between CNVs, brain morphometry, and cognitive abilities.
  • 1q21.1 deletion showed strongest links to frontal lobe surface area and digit memory.
  • 1q21.1 duplication was most associated with putamen volume and reaction time, mediated by distinct brain changes.

Conclusions:

  • CNVs with shared psychiatric liability exhibit distinct effects on brain morphometry and cognitive performance.
  • These findings suggest unique neurobiological pathways contributing to similar clinical phenotypes.
  • Understanding these distinct pathways is crucial for targeted interventions in mental disorders.