Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence

Jakub Kopal, Kuldeep Kumar, Karin Saltoun, Claudia Modenato, Clara A. Moreau, Sandra Martin-Brevet, Guillaume Huguet, Martineau Jean-Louis, Charles-Olivier Martin, Zohra Saci, Nadine Younis, Petra Tamer, Elise Douard, Anne M. Maillard, Borja Rodriguez-Herreros, Aurèlie Pain, Sonia Richetin, Leila Kushan, Ana I. Silva, Marianne B. M. Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Sarah Lippé, Bogdan Draganski, Ida E. Sønderby, Ole A. Andreassen, David C. Glahn, Paul M. Thompson, Carrie E. Bearden, Sébastien Jacquemont and Danilo Bzdok ()
Additional contact information
Jakub Kopal: McGill University
Kuldeep Kumar: Centre de recherche CHU Sainte-Justine and University of Montréal
Karin Saltoun: McGill University
Claudia Modenato: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Clara A. Moreau: Human Genetics and Cognitive Functions, CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur
Sandra Martin-Brevet: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Guillaume Huguet: Centre de recherche CHU Sainte-Justine and University of Montréal
Martineau Jean-Louis: Centre de recherche CHU Sainte-Justine and University of Montréal
Charles-Olivier Martin: Centre de recherche CHU Sainte-Justine and University of Montréal
Zohra Saci: Centre de recherche CHU Sainte-Justine and University of Montréal
Nadine Younis: Centre de recherche CHU Sainte-Justine and University of Montréal
Petra Tamer: Centre de recherche CHU Sainte-Justine and University of Montréal
Elise Douard: Centre de recherche CHU Sainte-Justine and University of Montréal
Anne M. Maillard: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Borja Rodriguez-Herreros: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Aurèlie Pain: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Sonia Richetin: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Leila Kushan: UCLA
Ana I. Silva: Maastricht University
Marianne B. M. Bree: Cardiff University
David E. J. Linden: Maastricht University
Michael J. Owen: Cardiff University
Jeremy Hall: Cardiff University
Sarah Lippé: Centre de recherche CHU Sainte-Justine and University of Montréal
Bogdan Draganski: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Ida E. Sønderby: Oslo University Hospital and University of Oslo
Ole A. Andreassen: Oslo University Hospital and University of Oslo
David C. Glahn: Boston Children’s Hospital and Harvard Medical School
Paul M. Thompson: Keck School of Medicine of USC
Carrie E. Bearden: UCLA
Sébastien Jacquemont: Centre de recherche CHU Sainte-Justine and University of Montréal
Danilo Bzdok: McGill University

Nature Human Behaviour, 2023, vol. 7, issue 6, 1001-1017

Abstract: Abstract Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.

Date: 2023
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DOI: 10.1038/s41562-023-01541-9

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