TY - JOUR
T1 - Genetic map of regional sulcal morphology in the human brain from UK biobank data
AU - Biogen Biobank Team
AU - Sun, Benjamin B.
AU - Loomis, Stephanie J.
AU - Pizzagalli, Fabrizio
AU - Shatokhina, Natalia
AU - Painter, Jodie N.
AU - Foley, Christopher N.
AU - Sun, Benjamin
AU - Tsai, Ellen
AU - Bronson, Paola
AU - Sexton, David
AU - John, Sally
AU - Marshall, Eric
AU - Patel, Mehool
AU - Duraisamy, Saranya
AU - Swan, Timothy
AU - Baird, Dennis
AU - Chen, Chia Yen
AU - Eaton, Susan
AU - Gagnon, Jake
AU - Gao, Feng
AU - Gubbels, Cynthia
AU - Huang, Yunfeng
AU - Kupelian, Varant
AU - Li, Kejie
AU - Liu, Dawei
AU - Loomis, Stephanie
AU - McLaughlin, Helen
AU - Mitchell, Adele
AU - Jensen, Megan E.
AU - McLaren, Donald G.
AU - Chintapalli, Sai Spandana
AU - Zhu, Alyssa H.
AU - Dixon, Daniel
AU - Islam, Tasfiya
AU - Ba Gari, Iyad
AU - Runz, Heiko
AU - Medland, Sarah E.
AU - Thompson, Paul M.
AU - Jahanshad, Neda
AU - Whelan, Christopher D.
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85140139601
U2 - 10.1038/s41467-022-33829-1
DO - 10.1038/s41467-022-33829-1
M3 - Article
C2 - 36241887
AN - SCOPUS:85140139601
SN - 2041-1723
VL - 13
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 6071
ER -