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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Sandra Martin-Brevet1, Borja Rodríguez-Herreros2, Jared A Nielsen3

  • 1Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; Laboratoire de Recherche en Neuroimagerie, Département des neurosciences cliniques, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.

Biological Psychiatry
|May 21, 2018
PubMed
Summary

Copy number variants (CNVs) at 16p11.2 impact brain structure, influencing autism and schizophrenia risk. This study reveals specific regional brain differences associated with 16p11.2 deletions and duplications.

Keywords:
16p11.2Autism spectrum disorderCopy number variantGeneticsImagingNeurodevelopmental disorders

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Area of Science:

  • Neuroimaging
  • Genetics
  • Developmental Neuroscience

Background:

  • 16p11.2 copy number variants (CNVs) are linked to increased risk for neurodevelopmental and psychiatric disorders, including autism spectrum disorder and schizophrenia.
  • These CNVs can manifest as deletions or duplications, suggesting a dose-dependent effect on genetic material.
  • Previous research indicates a potential impact on cognitive and language development.

Purpose of the Study:

  • To quantify the specific effects of 16p11.2 deletions and duplications on brain structure.
  • To investigate whether these effects are consistent across different brain regions.
  • To explore the relationship between brain morphometry changes and clinical outcomes.

Main Methods:

  • Utilized structural magnetic resonance imaging (sMRI) data from a multisite study.
  • Employed voxel-based and surface-based morphometric analyses.
  • Included 78 individuals with 16p11.2 deletion, 71 with duplication, and 212 controls.

Main Results:

  • Observed a "mirror effect" in global brain morphometry between deletion and duplication groups.
  • Identified regional differences, with the insula showing a gradient (deletion > control > duplication).
  • Specific regions like the calcarine cortex, transverse temporal gyrus, superior/middle temporal gyri, caudate, and hippocampus showed distinct patterns of alteration based on CNV type.

Conclusions:

  • The effects of 16p11.2 CNVs on brain structure are robust and generalize across various factors including site, methods, age, and sex.
  • While CNV-associated brain changes contribute to clinical manifestations, additional factors are necessary for disorder development.
  • This research underscores the importance of genetic risk factors in understanding neurodevelopmental disorders.