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

• Published in: Communications biology Vol. 3; no. 1; p. 510
• Main Authors: Pizzagalli, Fabrizio, Auzias, Guillaume, Yang, Qifan, Mathias, Samuel R., Faskowitz, Joshua, Boyd, Joshua D., Amini, Armand, Rivière, Denis, McMahon, Katie L., de Zubicaray, Greig I., Martin, Nicholas G., Mangin, Jean-François, Glahn, David C., Blangero, John, Wright, Margaret J., Thompson, Paul M., Kochunov, Peter, Jahanshad, Neda
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 15.09.2020; Nature Publishing Group
• Subjects: 59/57; 631/208/729; 631/378; Adult; Aged; Biology; Biomedical and Life Sciences; Brain - physiology; Brain - ultrastructure; Brain Mapping; Cerebral cortex; Cerebral Cortex - physiology; Cerebral Cortex - ultrastructure; Female; Heritability; Humans; Life Sciences; Magnetic Resonance Imaging; Male; Middle Aged; Pleiotropy
• ISSN: 2399-3642; 2399-3642
• DOI: 10.1038/s42003-020-01163-1

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. Fabrizio Pizzagalli et al. study the genetics factors that regulate cortical folding patterning in the brain. They use in vivo brain MRI datasets from around the world and report the reliability and heritability of sulcal morphometric characteristics for 61 sulci per hemisphere of the human brain. They uncover hemisphere-specific genetic influences on the cerebral cortex.