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

Sandra Martin; Borja Rodríguez-Herreros; Jared Nielsen; Clara Moreau; Claudia Modenato; Anne Maillard; Aurélie Pain; Sonia Richetin; Aia E. Jønch; Abid Qureshi; Nicole Zürcher; Phil Conus; Wendy Chu; Elliott Sherr; John Spiro; Ferath Kherif; Jacques Beckmann; Nouchine Hadjikhani; Alexandre Reymond; Randy L Buckner; Bogdan Draganski; Sébastien Jacquemont; Marie-Claude Addor; Joris Andrieux; Benoit Arveiler; Geneviève Baujat; Frédérique Sloan-Béna; Marco De Marco; Dominique Bonneau; Sonia Bouquillon; Odile Boute; Alfredo Brusco; Tiffany Busa; Hubert Caberg; Dominique Campion; Vanessa Colombert; Mari Cordier; David David; François-Guillaume Debray; Mari Delrue; Martine Martin; Ulrike Dunkhase-Heinl; Patrick Edery; Christina R. Fagerberg; Lauren Faivre; Francesca Forzano; David Geneviève; Mari Gérard; Daniela Giachino; Agnès Guichet; Olivier Guillin; Delphine Héron; Bertrand Isidor; Aurelia Jacquette; Sylvie Jaillard; Hubert Journel; Boris Keren; Didier Lacombe; Sébastien Lebon; Cédric Le Caignec; Mari Lemaître; James Lespinasse; Michèle Mathieu-Dramart; Sandra Mercier; Cyril Mignot; Chantal Missirian; Florence Petit; Kristina Pilekær Sørensen; Lucile Pinson; Ghislaine Plessis; Fabienne Prieur; Caroline Rooryck-Thambo; Massimiliano Rossi; Damien Sanlaville; Britta Schlott Kristiansen; Caroline Schluth Schluth-Bolard; Mari Till; Mieke M. van Haelst; Lionel van Maldergem; Hana Alupay; Benjamin Aaronson; Sean Ackerman; Katy Ankenman; Ayesha Anwar; Constance Atwell; Alexandra Bowe; Beau Beaudet; Marta Benedetti; Jessica Berg; Jeffrey Berman; Leandra Berry; Audrey Bibb; Lisa Blaskey; Jonathan Brennan; Christie Brewton; Polina Bukshpun; Jordan Burko; Phil Cali; Bettina Cerban; Yishin Chang; Maxwell Cheong; Vivian Chow; Zili Chu; Darina Chudnovskaya; Lauren Cornew; Corby Dale; John Dell; Allison Dempsey; Trent Deschamps; Rachel Earl; James Edgar; Jenna Elgin; Jennifer Olson; Yolanda Evans; Anne Findlay; Gerald Fischbach; Charlie Fisk; Brieana Fregeau; Bill Gaetz; Leah Gaetz; Silvia Garza; Jennifer Gerdts; Orit Glenn; Sarah Gobuty; Rachel Golembski; Mari Greenup; Kory Heiken; Katherine Hines; Leighton Hinkley; Frank Jackson; Julia Jenkins; Rita Jeremy; Kelly Johnson; Stephen Kanne; Sudha Kessler; Sarah Khan; Matthew Ku; Emily Kuschner; Anna Laakman; Peter Lam; Morgan Lasala; Hana Lee; Kevin Laguerre; Susan Levy; Alyss Lian Cavanagh; Ashlie Llorens; Katherine Loftus Campe; Tracy Luks; Elysa Marco; Stephen Martin; Alastair Martin; Gabriela Marzano; Christina Masson; Kathleen Mcgovern; Rebecca Mcnally Keehn; David Miller; Fiona Miller; Timothy Moss; Rebecca Murray; Srikantan Nagarajan; Kerri Nowell; Julia Owen; Andrea Paal; Alan Packer; Patricia Page; Brianna Paul; Alana Peters; Danica Peterson; Annapurna Poduri; Nicholas Pojman; Ken Porche; Monica Proud; Saba Qasmieh; Melissa Ramocki; Beau Reilly; Timothy P.L. Roberts; Dennis Shaw; Tuhin Sinha; Bethanny Smith-Packard; Anne Gallagher; Vivek Swarnakar; Tony Thieu; Christina Triantafallou; Roger Vaughan; Mari Wakahiro; Arianne Wallace; Tracey Ward; Julia Wenegrat; Anne Wolken

doi:10.1016/j.biopsych.2018.02.1176

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

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

Sandra Martin, Borja Rodríguez-Herreros, Jared Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia E. Jønch, Abid Qureshi, …

Biological Psychiatry, Vol.84(4), pp.253 - 264

08/2018

DOI: https://doi.org/10.1016/j.biopsych.2018.02.1176

PMID: 29778275

Résumé

Genetics

Imaging

16p112

Neurodevelopmental disorders

Autism spectrum disorder

Copy number variant

Background: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure.Methods: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV.Results: Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < -1), and the caudate and hippocampus (control > duplication; -0.5 > Cohen's d > -1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results.Conclusions: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings partially overlap with results of meta-analyses performed across psychiatric disorders. However, the lack of correlation between morphometric and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria.

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Titre: Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Créateurs - sans rôle: Sandra Martin - University of Lausanne
Borja Rodríguez-Herreros - University of Lausanne
Jared Nielsen - Harvard University Press
Clara Moreau - Centre Hospitalier Universitaire Sainte-Justine
Claudia Modenato - University Hospital of Lausanne
Anne Maillard - University Hospital of Lausanne
Aurélie Pain - University Hospital of Lausanne
Sonia Richetin - University of Lausanne
Aia E. Jønch - Centre Hospitalier Universitaire Sainte-Justine
Abid Qureshi - Harvard University Press
Nicole Zürcher - Massachusetts General Hospital
Phil Conus - Massachusetts General Hospital
Wendy Chu - Columbia University
Elliott Sherr - University of California, San Francisco
John Spiro - Simons Foundation
Ferath Kherif - University of Lausanne
Jacques Beckmann - University Hospital of Lausanne
Nouchine Hadjikhani - Massachusetts General Hospital
Alexandre Reymond - University of Lausanne
Randy L Buckner - Department of Psychiatry [Boston]
Bogdan Draganski - University Hospital of Lausanne
Sébastien Jacquemont - Centre Hospitalier Universitaire Sainte-Justine
Marie-Claude Addor - Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital [Lausanne]
Joris Andrieux - Laboratoire de Génétique Clinique
Benoit Arveiler - Laboratoire de Génétique Humaine, Développement et Cancer
Geneviève Baujat - Hôpital Necker-Enfants Malades
Frédérique Sloan-Béna
Marco De Marco - Marconi University
Dominique Bonneau - ParisTech
Sonia Bouquillon - Systèmes de Référence Temps-Espace
Odile Boute - Centre Oscar Lambret
Alfredo Brusco - Santen
Tiffany Busa - Génétique Médicale & Génomique Fonctionelle
Hubert Caberg
Dominique Campion - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Vanessa Colombert
Mari Cordier
David David
François-Guillaume Debray - Centre Hospitalier Universitaire de Liège
Mari Delrue
Martine Martin
Ulrike Dunkhase-Heinl
Patrick Edery - Service de cytogénétique constitutionnelle
Christina R. Fagerberg - Lillebaelt Hospital
Lauren Faivre
Francesca Forzano - Institute of Child Health
David Geneviève - Institute for Regenerative Medicine & Biotherapy
Mari Gérard
Daniela Giachino
Agnès Guichet - Centre Hospitalier Universitaire d'Angers
Olivier Guillin - Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques
Delphine Héron - Sorbonne Université
Bertrand Isidor - Génétique Médicale & Génomique Fonctionelle
Aurelia Jacquette - Institut du Cerveau
Sylvie Jaillard - Institut de Recherche en Santé, Environnement et Travail
Hubert Journel - Génétique Médicale & Génomique Fonctionelle
Boris Keren - Institut du Cerveau
Didier Lacombe - Génétique Médicale & Génomique Fonctionelle
Sébastien Lebon - Hôpital Robert-Debré
Cédric Le Caignec
Mari Lemaître
James Lespinasse - Département de Génétique Chromosomique
Michèle Mathieu-Dramart
Sandra Mercier - University Hospital of Lausanne
Cyril Mignot - Sorbonne Université
Chantal Missirian - Hôpital de la Timone
Florence Petit - Centre de Recherche Jean Pierre Aubert
Kristina Pilekær Sørensen
Lucile Pinson - Service de génétique
Ghislaine Plessis - Centre Hospitalier Universitaire de Caen Normandie
Fabienne Prieur - Laboratoire de Génétique Cellulaire
Caroline Rooryck-Thambo - Centre Hospitalier Universitaire de Bordeaux
Massimiliano Rossi - Hospices Civils de Lyon
Damien Sanlaville - Centre Hospitalier Le Vinatier
Britta Schlott Kristiansen
Caroline Schluth Schluth-Bolard - Université Claude Bernard Lyon 1
Mari Till
Mieke M. van Haelst - Hammersmith Hospital
Lionel van Maldergem - Université Paris-Est Créteil
Hana Alupay
Benjamin Aaronson
Sean Ackerman
Katy Ankenman
Ayesha Anwar
Constance Atwell
Alexandra Bowe
Beau Beaudet
Marta Benedetti
Jessica Berg
Jeffrey Berman
Leandra Berry
Audrey Bibb
Lisa Blaskey
Jonathan Brennan
Christie Brewton
Polina Bukshpun
Jordan Burko
Phil Cali - University Hospital of Lausanne
Bettina Cerban
Yishin Chang
Maxwell Cheong
Vivian Chow
Zili Chu
Darina Chudnovskaya
Lauren Cornew
Corby Dale
John Dell
Allison Dempsey
Trent Deschamps
Rachel Earl
James Edgar
Jenna Elgin
Jennifer Olson
Yolanda Evans
Anne Findlay
Gerald Fischbach
Charlie Fisk
Brieana Fregeau
Bill Gaetz
Leah Gaetz
Silvia Garza
Jennifer Gerdts - Department of Psychiatry and Behavioral Sciences!
Orit Glenn - University of California [San Francisco]
Sarah Gobuty
Rachel Golembski
Mari Greenup
Kory Heiken
Katherine Hines
Leighton Hinkley
Frank Jackson - Unité de Recherches Zootechniques
Julia Jenkins
Rita Jeremy
Kelly Johnson
Stephen Kanne
Sudha Kessler
Sarah Khan
Matthew Ku
Emily Kuschner
Anna Laakman
Peter Lam
Morgan Lasala
Hana Lee
Kevin Laguerre
Susan Levy
Alyss Lian Cavanagh
Ashlie Llorens
Katherine Loftus Campe
Tracy Luks
Elysa Marco
Stephen Martin
Alastair Martin - University of California [San Francisco]
Gabriela Marzano
Christina Masson
Kathleen Mcgovern
Rebecca Mcnally Keehn
David Miller - UCL Queen Square Institute of Neurology
Fiona Miller
Timothy Moss
Rebecca Murray
Srikantan Nagarajan - Biomagnetic Imaging Laboratory - University of California
Kerri Nowell
Julia Owen
Andrea Paal
Alan Packer
Patricia Page
Brianna Paul
Alana Peters
Danica Peterson
Annapurna Poduri
Nicholas Pojman
Ken Porche
Monica Proud
Saba Qasmieh
Melissa Ramocki
Beau Reilly
Timothy P.L. Roberts
Dennis Shaw
Tuhin Sinha
Bethanny Smith-Packard
Anne Gallagher
Vivek Swarnakar
Tony Thieu
Christina Triantafallou
Roger Vaughan
Mari Wakahiro
Arianne Wallace
Tracey Ward
Julia Wenegrat
Anne Wolken
Détails de publication: Biological Psychiatry, Vol.84(4), pp.253 - 264
Note de subvention: SFARI219193, Simons Foundation
Identifiants: 99151619309311
Unité académique: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Langue: English
Type de ressource: Journal article
Champs locaux: hal-01870357