The genetic architecture of human cortical folding

D. van der Meer*, T. Kaufmann, A.A. Shadrin, C. Makowski, O. Frei, D. Roelfs, J. Monereo-Sanchez, D.E.J. Linden, J. Rokicki, D. Alnaes, C. de Leeuw, W.K. Thompson, R. Loughnan, C.C. Fan, L.T. Westlye, O.A. Andreassen, A.M. Dale

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

The folding of the human cerebral cortex is a highly genetically regulated process that allows for a much larger surface area to fit into the cranial vault and optimizes functional organization. Sulcal depth is a robust yet understudied measure of localized folding, previously associated with multiple neurodevelopmental disorders. Here, we report the first genome-wide association study of sulcal depth. Through the multivariate omnibus statistical test (MOSTest) applied to vertex-wise measures from 33,748 U.K. Biobank participants (mean age, 64.3 years; 52.0% female), we identified 856 genome-wide significant loci (P < 5 x 10(-8)). Comparisons with cortical thickness and surface area indicated that sulcal depth has higher locus yield, heritability, and effective sample size. There was a large amount of genetic overlap between these traits, with gene-based analyses indicating strong associations with neurodevelopmental processes. Our findings demonstrate sulcal depth is a promising neuroimaging phenotype that may enhance our understanding of cortical morphology.
Original languageEnglish
Article numbereabj9446
Number of pages9
JournalScience advances
Volume7
Issue number51
DOIs
Publication statusPublished - 1 Dec 2021

Keywords

  • CEREBRAL-CORTEX
  • TANGENTIAL EXPANSION
  • ABNORMALITIES
  • GYRIFICATION
  • VARIABILITY
  • GUIDANCE
  • PROFILE

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