HCAR3 May Mediate Autism Symptoms: Evidence From RNA-Sequencing of Peripheral Blood Mononuclear Cells.

IF 1.8 4区医学 Q3 PSYCHIATRY

Psychiatry Investigation Pub Date : 2025-08-01 Epub Date: 2025-07-31 DOI:10.30773/pi.2024.0377

Feng Wang, Sen Yang, Jingting Xu, Jiao Zuo, Mingyang Zou, Caihong Sun

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引用次数: 0

Abstract

Objective: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which there is currently no effective treatment, and no reliable diagnostic biomarkers are available for ASD.

Methods: The present study was designed to compare the gene expression profiles in children with ASD and typically developing children and validate differentially expressed genes (DEGs) to assist in the search for the pathophysiological markers of ASD.

Results: The results demonstrated the identification of 35 common DEGs with down-regulated expression and 21 with up-regulated expression. Gene ontology and Kyoto Encyclopedia of Genes and Genomes analyses demonstrated that these DEGs were predominantly involved in signaling and immunity pathways. Our findings revealed that hydroxycarboxylic acid receptor 3 (HCAR3) and tumor necrosis factor ligand superfamily member 15 (TNFSF15) were associated with ASD-related symbols. Following validation by external and internal cohorts, HCAR3 may be identified as a risk gene for ASD.

Conclusion: Collectively, our findings indicate that some signaling-related and immune-related genes are expressed abnormally in children with ASD, and suggest that HCAR3 plays a critical role in the ASD phenotype. These findings may offer promising avenues for developing effective diagnostic biomarkers for ASD.

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HCAR3可能介导自闭症症状：来自外周血单个核细胞rna测序的证据

目的：自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，目前尚无有效的治疗方法，也没有可靠的诊断性生物标志物。方法：本研究旨在比较ASD儿童与正常发育儿童的基因表达谱，并验证差异表达基因（differential expression genes, DEGs），以帮助寻找ASD的病理生理标志物。结果：共鉴定出表达下调的deg 35个，表达上调的deg 21个。基因本体论和京都基因与基因组百科分析表明，这些deg主要参与信号传导和免疫途径。我们的研究结果显示，羟基羧酸受体3 （HCAR3）和肿瘤坏死因子配体超家族成员15 （TNFSF15）与asd相关符号相关。在外部和内部队列验证后，HCAR3可能被确定为ASD的风险基因。结论：综上所述，我们的研究结果表明一些信号相关和免疫相关基因在ASD儿童中表达异常，提示HCAR3在ASD表型中起关键作用。这些发现可能为开发ASD的有效诊断生物标志物提供了有希望的途径。

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

Psychiatry Investigation PSYCHIATRY-

CiteScore

4.10

自引率

3.70%

发文量

105

审稿时长

6-12 weeks

期刊介绍： The Psychiatry Investigation is published on the 25th day of every month in English by the Korean Neuropsychiatric Association (KNPA). The Journal covers the whole range of psychiatry and neuroscience. Both basic and clinical contributions are encouraged from all disciplines and research areas relevant to the pathophysiology and management of neuropsychiatric disorders and symptoms, as well as researches related to cross cultural psychiatry and ethnic issues in psychiatry. The Journal publishes editorials, review articles, original articles, brief reports, viewpoints and correspondences. All research articles are peer reviewed. Contributions are accepted for publication on the condition that their substance has not been published or submitted for publication elsewhere. Authors submitting papers to the Journal (serially or otherwise) with a common theme or using data derived from the same sample (or a subset thereof) must send details of all relevant previous publications and simultaneous submissions. The Journal is not responsible for statements made by contributors. Material in the Journal does not necessarily reflect the views of the Editor or of the KNPA. Manuscripts accepted for publication are copy-edited to improve readability and to ensure conformity with house style.