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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Abstract: Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (??=??0.71 to ?1.37; P?

 Fuente: Molecular Psychiatry, 2020, 25(3), 584-602 - (CORRECTION), 2020, 25(3), 692-695

 Editorial: Nature Publishing Group

 Año de publicación: 2020

 Nº de páginas: 19

 Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41380-018-0118-1

 ISSN: 1359-4184,1476-5578

 Proyecto español: SAF2013-46292-R

 Url de la publicación: https://doi.org/10.1038/s41380-018-0118-1

Autoría

SONDERBY, IDA E.

GÚSTAFSSON, ÓMAR

DOAN, NHAT TRUNG

HIBAR, DERREK P.

MARTIN-BREVET, SANDRA

ABDELLAOUI, ABDEL

AMES, DAVID

AMUNTS, KATRIN

ANDERSSON, MICHAEL

ARMSTRONG, NICOLA J.

BERNARD, MANON

BLACKBURN, NICHOLAS

BLANGERO, JOHN

BOOMSMA, DORRET I.

BRALTEN, JANITA

BRATTBAK, HANS-RICHARD

BRODATY, HENRY

BROUWER, RACHEL M.

BENEDICTO CRESPO FACORRO

ROBERTO ROIZ SANTIAÑEZ