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

Author

Listed:
  • Benjamin B. Sun

    (Translational Biology, Research & Development, Biogen Inc.
    University of Cambridge)

  • Stephanie J. Loomis

    (Translational Biology, Research & Development, Biogen Inc.)

  • Fabrizio Pizzagalli

    (University of Turin
    University of Southern California)

  • Natalia Shatokhina

    (University of Southern California)

  • Jodie N. Painter

    (QIMR Berghofer Medical Research Institute)

  • Christopher N. Foley

    (University of Cambridge
    Optima Partners)

  • 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.)

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.

Suggested Citation

  • 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. , 2022. "Genetic map of regional sulcal morphology in the human brain from UK biobank data," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-33829-1
    DOI: 10.1038/s41467-022-33829-1
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