Abstract

Our aim is to explore the spatial and temporal features of anorexia nervosa (AN) and obsessive-compulsive disorder (OCD) considering different brain regions and development stages. The gene sets related to 16 brain regions and nine development stages were obtained from a brain spatial and temporal transcriptomic dataset. Using the genome-wide association study data, transcriptome-wide association study (TWAS) was conducted to identify the genes whose imputed expressions were associated with AN and OCD, respectively. The mRNA expression profiles were analyzed by GEO2R to obtain differentially expressed genes. Gene set enrichment analysis was conducted to detect the spatial and temporal features related to AN and OCD using the TWAS and mRNA expression analysis results. We observed multiple common association signals shared by TWAS and mRNA expression analysis of AN, such as the primary auditory cortex vs. cerebellar cortex in fetal development and earlier vs. later fetal development in the somatosensory cortex. For OCD, we also detected multiple common association signals, such as medial prefrontal cortex vs. amygdala in adulthood and fetal development vs. infancy in mediodorsal nucleus of thalamus. Our study provides novel clues for describing the spatial and temporal features of brain development in the pathogenesis of AN and OCD.

中文翻译：

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综合基因组富集分析确定了与神经性厌食症和强迫症相关的大脑区域和发育阶段。

摘要

我们的目的是探索神经性厌食症 (AN) 和强迫症 (OCD) 的时空特征，考虑到不同的大脑区域和发育阶段。从大脑空间和时间转录组数据集获得与 16 个大脑区域和 9 个发育阶段相关的基因集。使用全基因组关联研究数据，进行全转录组关联研究 (TWAS) 以确定其推算表达分别与 AN 和 OCD 相关的基因。通过GEO2R分析mRNA表达谱以获得差异表达的基因。使用TWAS和mRNA表达分析结果进行基因集富集分析以检测与AN和OCD相关的时空特征。我们观察到 TWAS 和 AN 的 mRNA 表达分析共享的多个常见关联信号，例如胎儿发育中的初级听觉皮层与小脑皮层，以及体感皮层中胎儿发育的早期与晚期。对于强迫症，我们还检测到多个常见的关联信号，例如内侧前额叶皮层与成年期的杏仁核以及胎儿发育与婴儿期的丘脑内侧核。我们的研究为描述 AN 和 OCD 发病机制中大脑发育的时空特征提供了新的线索。成年期和胎儿发育期的杏仁核与丘脑内侧核的婴儿期。我们的研究为描述 AN 和 OCD 发病机制中大脑发育的时空特征提供了新的线索。成年期和胎儿发育期的杏仁核与丘脑内侧核的婴儿期。我们的研究为描述 AN 和 OCD 发病机制中大脑发育的时空特征提供了新的线索。