The reliability and heritability of cortical folds and their genetic correlations across hemispheres

Fabrizio Pizzagalli, Guillaume Auzias, Qifan Yang, Samuel R. Mathias, Joshua Faskowitz, Joshua D. Boyd, Armand Amini, Denis Rivière, Katie L. McMahon, Greig I. de Zubicaray, Nicholas G. Martin, Jean François Mangin, David C. Glahn, John Blangero, Margaret J. Wright, Paul M. Thompson, Peter Kochunov, Neda Jahanshad

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Cortical folds help drive the parcellation of the human cortex into functionally specific regions. Variations in the length, depth, width, and surface area of these sulcal landmarks have been associated with disease, and may be genetically mediated. Before estimating the heritability of sulcal variation, the extent to which these metrics can be reliably extracted from in-vivo MRI must be established. Using four independent test-retest datasets, we found high reliability across the brain (intraclass correlation interquartile range: 0.65–0.85). Heritability estimates were derived for three family-based cohorts using variance components analysis and pooled (total N > 3000); the overall sulcal heritability pattern was correlated to that derived for a large population cohort (N > 9000) calculated using genomic complex trait analysis. Overall, sulcal width was the most heritable metric, and earlier forming sulci showed higher heritability. The inter-hemispheric genetic correlations were high, yet select sulci showed incomplete pleiotropy, suggesting hemisphere-specific genetic influences.

Original languageEnglish (US)
Article number510
JournalCommunications Biology
Issue number1
StatePublished - Dec 1 2020
Externally publishedYes

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)


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