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.

皮质褶皱有助于将人类皮质分割成功能特定的区域。这些脑沟标志的长度、深度、宽度和表面积的变化与疾病相关，并且可能是遗传介导的。在估计脑沟变异的遗传性之前，必须确定从体内 MRI 中可靠提取这些指标的程度。使用四个独立的重测数据集，我们发现整个大脑的可靠性很高（类内相关四分位数范围：0.65-0.85）。使用方差成分分析得出三个基于家庭的队列的遗传力估计值并进行汇总（总 N > 3000）；整体脑沟遗传力模式与使用基因组复杂性状分析计算得出的大型人群队列（N > 9000）的遗传力模式相关。总体而言，脑沟宽度是最具遗传性的指标，较早形成的脑沟显示出更高的遗传力。半球间的遗传相关性很高，但某些脑沟显示出不完全的多效性，表明半球特异性的遗传影响。