Huang Ying, Zhang Tuo, Zhang Songyao, Zhang Weihan, Yang Li, Zhu Dajiang, Liu Tianming, Jiang Xi, Han Junwei, Guo Lei
School of Automation, Northwestern Polytechnical University, Xi'an 710129, China; School of Information and Technology, Northwest University, Xi'an 710127, China.
School of Automation, Northwestern Polytechnical University, Xi'an 710129, China.
Neuroimage. 2023 Oct 15;280:120344. doi: 10.1016/j.neuroimage.2023.120344. Epub 2023 Aug 22.
Genetic mechanisms have been hypothesized to be a major determinant in the formation of cortical folding. Although there is an increasing number of studies examining the heritability of cortical folding, most of them focus on sulcal pits rather than gyral peaks. Gyral peaks, which reflect the highest local foci on gyri and are consistent across individuals, remain unstudied in terms of heritability. To address this knowledge gap, we used high-resolution data from the Human Connectome Project (HCP) to perform classical twin analysis and estimate the heritability of gyral peaks across various brain regions. Our results showed that the heritability of gyral peaks was heterogeneous across different cortical regions, but relatively symmetric between hemispheres. We also found that pits and peaks are different in a variety of anatomic and functional measures. Further, we explored the relationship between the levels of heritability and the formation of cortical folding by utilizing the evolutionary timeline of gyrification. Our findings indicate that the heritability estimates of both gyral peaks and sulcal pits decrease linearly with the evolution timeline of gyrification. This suggests that the cortical folds which formed earlier during gyrification are subject to stronger genetic influences than the later ones. Moreover, the pits and peaks coupled by their time of appearance are also positively correlated in respect of their heritability estimates. These results fill the knowledge gap regarding genetic influences on gyral peaks and significantly advance our understanding of how genetic factors shape the formation of cortical folding. The comparison between peaks and pits suggests that peaks are not a simple morphological mirror of pits but could help complete the understanding of folding patterns.
遗传机制被认为是皮质折叠形成的主要决定因素。尽管越来越多的研究在探讨皮质折叠的遗传性，但其中大多数关注的是脑沟凹陷而非脑回峰值。脑回峰值反映了脑回上的最高局部焦点且个体间具有一致性，但在遗传性方面仍未得到研究。为填补这一知识空白，我们使用了人类连接组计划（HCP）的高分辨率数据进行经典双生子分析，并估计不同脑区脑回峰值的遗传性。我们的结果表明，脑回峰值的遗传性在不同皮质区域是异质性的，但在半球间相对对称。我们还发现，凹陷和峰值在多种解剖学和功能测量方面存在差异。此外，我们利用脑回形成的进化时间线，探讨了遗传性水平与皮质折叠形成之间的关系。我们的研究结果表明，脑回峰值和脑沟凹陷的遗传性估计值均随脑回形成的进化时间线呈线性下降。这表明，在脑回形成过程中较早形成的皮质折叠比后期形成的受到更强的遗传影响。此外，按出现时间配对的凹陷和峰值在遗传性估计方面也呈正相关。这些结果填补了关于遗传对脑回峰值影响的知识空白，并显著推进了我们对遗传因素如何塑造皮质折叠形成的理解。峰值与凹陷的比较表明，峰值并非凹陷的简单形态镜像，但有助于完善对折叠模式的理解。
