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Published on: June 26, 2013
Structural and functional brain alterations revealed by neuroimaging in CNV carriers
Clara A Moreau1, Christopher Rk Ching2, Kuldeep Kumar3
1Sainte-Justine Hospital Research Center, Montreal, Canada; Department of Pediatrics, University of Montreal, Montreal, Canada; Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montréal, Canada; Human Genetics and Cognitive Functions, CNRS UMR 3571, Université de Paris, Institut Pasteur, Paris, France.
Copy Number Variants (CNVs) significantly impact brain structure and function, increasing neuropsychiatric disorder risk. Neuroimaging genomics research is advancing our understanding of these genetic influences on brain endophenotypes.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Copy Number Variants (CNVs) are linked to higher rates of neuropsychiatric disorders.
- A genetics-first approach examines CNV effects on the brain, independent of clinical symptoms, to understand underlying mechanisms in the general population.
Purpose of the Study:
- To review recent findings on CNV-associated structural and functional brain alterations.
- To outline future directions in neuroimaging genomics research, focusing on high-risk CNVs and rare genomic variants.
Main Methods:
- Review of multisite neuroimaging studies investigating CNV effects on brain endophenotypes.
- Analysis of structural and functional brain alterations associated with CNVs.
Main Results:
- CNV-associated brain alterations show overlap with those in idiopathic psychiatric conditions.
- Effect sizes of CNV-related brain alterations are significantly larger (twofold to fivefold) than those typically observed.
Conclusions:
- Neuroimaging genomics is crucial for understanding the brain mechanisms of neuropsychiatric disorders.
- Future research requires enhanced resources for studying high-risk CNVs and rare genomic variants to advance the field.

