Genetic map of regional sulcal morphology in the human brain from UK biobank data

Benjamin B. Sun (), Stephanie J. Loomis, Fabrizio Pizzagalli, Natalia Shatokhina, Jodie N. Painter, Christopher N. Foley, Megan E. Jensen, Donald G. McLaren, Sai Spandana Chintapalli, Alyssa H. Zhu, Daniel Dixon, Tasfiya Islam, Iyad Ba Gari, Heiko Runz, Sarah E. Medland, Paul M. Thompson (), Neda Jahanshad () and Christopher D. Whelan ()
Additional contact information
Benjamin B. Sun: Translational Biology, Research & Development, Biogen Inc.
Stephanie J. Loomis: Translational Biology, Research & Development, Biogen Inc.
Fabrizio Pizzagalli: University of Turin
Natalia Shatokhina: University of Southern California
Jodie N. Painter: QIMR Berghofer Medical Research Institute
Christopher N. Foley: University of Cambridge
Megan E. Jensen: Clinical Sciences, Research & Development, Biogen Inc.
Donald G. McLaren: Clinical Sciences, Research & Development, Biogen Inc.
Sai Spandana Chintapalli: University of Pennsylvania
Alyssa H. Zhu: University of Southern California
Daniel Dixon: University of Southern California
Tasfiya Islam: University of Southern California
Iyad Ba Gari: University of Southern California
Heiko Runz: Translational Biology, Research & Development, Biogen Inc.
Sarah E. Medland: QIMR Berghofer Medical Research Institute
Paul M. Thompson: University of Southern California
Neda Jahanshad: University of Southern California
Christopher D. Whelan: Translational Biology, Research & Development, Biogen Inc.

Nature Communications, 2022, vol. 13, issue 1, 1-13

Abstract: Abstract Genetic 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.

Date: 2022
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DOI: 10.1038/s41467-022-33829-1

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