Identification and Validation of Transcriptomic Signatures in Inflammatory Bowel Disease with Metabolic Syndrome via Bioinformatics and Machine Learning.

IF 1.2 4区 生物学 Q4 GENETICS & HEREDITY
Genetic testing and molecular biomarkers Pub Date : 2026-05-01 Epub Date: 2026-04-14 DOI:10.1177/19450265261440155
Yu-Zhe Yin, Chao-Sheng Yan, Ling Wu, Guo-Qing Li, Xin-Yu Pei, Yu-Zheng Xue, Yi-Lin Ren, Hao-Wen Sun, Ying-Yue Sheng
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引用次数: 0

Abstract

Background: Inflammatory bowel disease (IBD) is a chronic, nonspecific inflammatory disorder affecting the gastrointestinal tract. The condition's pathology not only involves the digestive system but also can impact various organs and tissues throughout the body. Metabolic syndrome is a clinical syndrome characterized by obesity, insulin resistance, hypertension, and hyperlipidemia. Extensive research suggests a potential association between IBD and metabolic syndrome.

Aim: To seek biomarkers related to the diagnosis and treatment of IBD and metabolic syndrome.

Methods: In this study, we utilized bioinformatics, integrated transcriptome analysis, and machine learning to develop a diagnostic model for the co-occurrence of IBD and metabolic syndrome. We applied two machine learning algorithms to select relevant features Least Absolute Shrinkage and Selection Operator and Random Forest (RF). Moreover, through external datasets and quantitative real-time polymerase chain reaction (qRT-PCR) experiments, we validated our findings.

Results: We identified nine candidate gene-expression-based biomarkers (CCR6, CST7, LIMK2, TCF4, THBS3, CARS2, IFI27, LETM1, LOXL1) associated with immune and metabolic regulation that exhibited discriminatory potential for IBD complicated by metabolic syndrome. Furthermore, a column chart for diagnosing IBD in metabolic syndrome patients is provided.

Conclusion: Our study demonstrates that integrated bioinformatics and machine learning approaches can identify transcriptomic signatures associated with IBD and metabolic syndrome, providing candidate biomarkers for further validation.

通过生物信息学和机器学习识别和验证炎症性肠病伴代谢综合征的转录组特征。
背景:炎症性肠病(IBD)是一种影响胃肠道的慢性、非特异性炎症性疾病。这种疾病的病理不仅涉及消化系统,还会影响全身的各种器官和组织。代谢综合征是一种以肥胖、胰岛素抵抗、高血压、高脂血症为特征的临床综合征。广泛的研究表明IBD和代谢综合征之间存在潜在的联系。目的:寻找与IBD及代谢综合征诊断和治疗相关的生物标志物。方法:在本研究中,我们利用生物信息学、综合转录组分析和机器学习来建立IBD和代谢综合征共存的诊断模型。我们应用了两种机器学习算法来选择相关特征最小绝对收缩和选择算子和随机森林(RF)。此外,通过外部数据集和定量实时聚合酶链反应(qRT-PCR)实验,我们验证了我们的发现。结果:我们确定了9个候选的基于基因表达的生物标志物(CCR6、CST7、LIMK2、TCF4、THBS3、CARS2、IFI27、LETM1、LOXL1),这些生物标志物与IBD合并代谢综合征的免疫和代谢调节有关,具有鉴别潜力。此外,还提供了代谢综合征患者诊断IBD的柱状图。结论:我们的研究表明,综合生物信息学和机器学习方法可以识别与IBD和代谢综合征相关的转录组特征,为进一步验证提供候选生物标志物。
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
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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