Genetic map of regional sulcal morphology in the human brain from UK biobank data
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Published:2022-10-14
Issue:1
Volume:13
Page:
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ISSN:2041-1723
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Container-title:Nature Communications
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language:en
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Short-container-title:Nat Commun
Author:
Sun Benjamin B.ORCID, Loomis Stephanie J., Pizzagalli Fabrizio, Shatokhina Natalia, Painter Jodie N.ORCID, Foley Christopher N.ORCID, Sun Benjamin, Tsai Ellen, Bronson Paola, Sexton David, John Sally, Marshall Eric, Patel Mehool, Duraisamy Saranya, Swan Timothy, Baird Dennis, Chen Chia-Yen, Eaton Susan, Gagnon Jake, Gao Feng, Gubbels Cynthia, Huang Yunfeng, Kupelian Varant, Li Kejie, Liu Dawei, Loomis Stephanie, McLaughlin Helen, Mitchell Adele, Jensen Megan E., McLaren Donald G., Chintapalli Sai Spandana, Zhu Alyssa H., Dixon Daniel, Islam Tasfiya, Ba Gari IyadORCID, Runz HeikoORCID, Medland Sarah E.ORCID, Thompson Paul M., Jahanshad Neda, Whelan Christopher D.ORCID,
Abstract
AbstractGenetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted large-scale genome- and exome-wide associations of regional cortical sulcal measures derived from magnetic resonance imaging scans of 40,169 individuals in UK Biobank. We discovered 388 regional brain folding associations across 77 genetic loci, with genes in associated loci enriched for expression in the cerebral cortex, neuronal development processes, and differential regulation during early brain development. We integrated brain eQTLs to refine genes for various loci, implicated several genes involved in neurodevelopmental disorders, and highlighted global genetic correlations with neuropsychiatric phenotypes. We provide an interactive 3D visualisation of our summary associations, emphasising added resolution of regional analyses. Our results offer new insights into the genetic architecture of brain folding and provide a resource for future studies of sulcal morphology in health and disease.
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry,Multidisciplinary
Reference83 articles.
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