Genetic neurocognitive profile of autism unveiled with gene transcription

IF 5.1 2区医学 Q1 NEUROSCIENCES

Neurobiology of Disease Pub Date : 2025-04-25 DOI:10.1016/j.nbd.2025.106925

Yingxing Zhang , Fangfang Li , Hongli Wu , Wei Du , Jianhua Shu , Anqing Wang , Chunsheng Xu , Chuanfu Li , Ya Wang , Sheng Hu

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Abstract

How neurocognitive processes elaborate phenotypic heterogeneity within autism spectrum disorder (ASD) remains unknown. Applying the principal component analysis to the Neurosynth database, we established neurocognitive profiles to characterize the phenotypic heterogeneity of ASD, revealing a cortical hierarchical axis that separates the temporal cortex from other networks. By integrating neurocognitive profiles with transcriptomic data, we found that gene sets shaping the patterns of neurocognitive profiles are enriched in ASD-related biological processes and ASD pathogenic risk. Using a data-driven approach, we identified a topographic network for ASD, comprising the temporal, frontal, somatosensory, and visual cortices, with its transcriptomic signatures differentiating between regions over neurodevelopment. Additionally, functional reorganization in ASD within the topographic network has occurred with the temporal cortex as the central node. Collectively, our results reveal spatially covarying transcriptomic and neurocognitive profiles, emphasizing the influence of functional reorganization and its underlying genetic mechanism on phenotypic heterogeneity in ASD.

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基因转录揭示自闭症的遗传神经认知特征

神经认知过程如何在自闭症谱系障碍（ASD）中详细阐述表型异质性仍然未知。将主成分分析应用于Neurosynth数据库，我们建立了神经认知谱来表征ASD的表型异质性，揭示了将颞叶皮层与其他网络分开的皮层层次轴。通过整合神经认知谱和转录组学数据，我们发现塑造神经认知谱模式的基因集在ASD相关的生物学过程和ASD致病风险中丰富。使用数据驱动的方法，我们确定了ASD的地形网络，包括颞叶、额叶、体感和视觉皮质，其转录组特征在神经发育的不同区域之间存在差异。此外，在地形网络中，ASD的功能重组以颞叶皮层为中心节点发生。总的来说，我们的研究结果揭示了空间共变的转录组和神经认知谱，强调了功能重组及其潜在的遗传机制对ASD表型异质性的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurobiology of Disease 医学-神经科学

CiteScore

11.20

自引率

3.30%

发文量

270

审稿时长

76 days

期刊介绍： Neurobiology of Disease is a major international journal at the interface between basic and clinical neuroscience. The journal provides a forum for the publication of top quality research papers on: molecular and cellular definitions of disease mechanisms, the neural systems and underpinning behavioral disorders, the genetics of inherited neurological and psychiatric diseases, nervous system aging, and findings relevant to the development of new therapies.