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

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

Posted 07 Oct 2019
bioRxiv DOI: 10.1101/795591 (published DOI: 10.1038/s42003-020-01163-1)

The structure of the brain’s cortical folds varies considerably in human populations. Specific patterns of cortical variation arise with development and aging, and cortical traits are partially influenced by genetic factors. The degree to which genetic factors affect cortical folding patterning remains unknown, yet may be estimated with large-scale in-vivo brain MRI. Using multiple MRI datasets from around the world, we estimated the reliability and heritability of sulcal morphometric characteristics including length, depth, width, and surface area, for 61 sulci per hemisphere of the human brain. Reliability was assessed across four distinct test-retest datasets. We meta-analyzed the heritability across three independent family-based cohorts (N > 3,000), and one cohort of largely unrelated individuals (N~9,000) to examine the robustness of our findings. Reliability was high (interquartile range for ICC: 0.65−0.85) for sulcal metrics. Most sulcal measures were moderately to highly heritable (heritability estimates = 0.3−0.7). These genetic influences vary regionally, with the earlier forming sulci having higher heritability estimates. The central sulcus, the subcallosal and the collateral fissure were the most highly heritable regions. For some frontal and temporal sulci, left and right genetic influences did not completely overlap, suggesting some lateralization of genetic effects on the cortex.

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