Identification of ARHGAP9 as a Key Diagnostic Marker for Abdominal Aortic Aneurysm by Multiomics and Experimental Validation

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Zhe Peng, Kun Li, Shile Wu, Baozhang Chen, Xiaonan Wang, Liang Chen, Xinsheng Wang, Hao Zhang, Biao Wu
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Abstract

Abdominal aortic aneurysm (AAA) is a serious vascular condition that significantly endangers the lives of patients. Although there have been improvements in early detection and treatment methods, considerable challenges persist regarding the timely identification and evaluation of risk associated with this disease. Therefore, there is an immediate requirement for novel biomarkers that can enhance the early diagnosis and risk evaluation of AAA, thus allowing for more accurate and individualized medical interventions. In this study, we identified key diagnostic markers for AAA using various machine learning algorithms, and we explored the functions of these genes in AAA through gene enrichment analysis. A diagnostic model for AAA was constructed based on multiple machine learning algorithms, with the random forest algorithm highlighting the central role of ARHGAP9. In vitro experiments confirmed the influence of ARHGAP9 on vascular smooth muscle cells (VSMCs). Our findings indicate that the key genes identified are associated with the immune microenvironment and metabolism in AAA samples. The validated diagnostic model exhibited excellent predictive performance. Knockdown of ARHGAP9 significantly inhibited the proliferative capacity of VSMCs. In conclusion, our results suggest that ARHGAP9 may serve as a diagnostic and therapeutic marker for AAA.

Abstract Image

ARHGAP9作为腹主动脉瘤关键诊断标志物的多组学鉴定及实验验证
腹主动脉瘤(AAA)是一种严重的血管疾病,严重危及患者的生命。尽管在早期发现和治疗方法方面有所改进,但在及时识别和评估与这种疾病有关的风险方面仍然存在相当大的挑战。因此,迫切需要新的生物标志物来增强AAA的早期诊断和风险评估,从而允许更准确和个性化的医疗干预。在这项研究中,我们使用各种机器学习算法确定AAA的关键诊断标记,并通过基因富集分析探索这些基因在AAA中的功能。构建了基于多种机器学习算法的AAA诊断模型,其中随机森林算法突出了ARHGAP9的核心作用。体外实验证实了ARHGAP9对血管平滑肌细胞(vsmc)的影响。我们的研究结果表明,鉴定的关键基因与AAA样品的免疫微环境和代谢有关。经验证的诊断模型具有良好的预测性能。敲低ARHGAP9可显著抑制VSMCs的增殖能力。总之,我们的研究结果表明,ARHGAP9可能作为AAA的诊断和治疗标志物。
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来源期刊
Human Mutation
Human Mutation 医学-遗传学
CiteScore
8.40
自引率
5.10%
发文量
190
审稿时长
2 months
期刊介绍: Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
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