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Journal of Traditional Chinese Medicine >

2025 , Vol. 45 >Issue 4: 909 - 921

DOI: https://doi.org/10.19852/j.cnki.jtcm.2025.04.021

Original Articles

Identification of characteristic genes of Yin and Yang deficiency constitutions: an integrated analysis based on bioinformatics and machine learning

  • Xi LONG ,
  • Zixuan WU ,
  • Yunfeng YU ,
  • Jie LIN ,
  • Qinghua PENG
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  • 1 Department of Graduate School, Hunan University of Chinese Medicine, Changsha 410208, China
    2 Department of Chinese Medicine, Hunan University of Chinese Medicine, Changsha 410208, China
    3 Department of Obstetrics and Gynecology, The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha 410007, China
    4 Department of Ophthalmology, The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha 410007, China
Prof. LIN Jie, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha 410007, China. 978476646@qq.com.Telephone: +86-18274563185
Prof. PENG Qinghua, Department of Chinese Medicine, Hunan University of Chinese Medicine, Changsha 410208, China. pengqinghua@hnucm.edu.cn;
First author contact:

LONG Xi and WU Zixuan are co-first authors and contributed equally to this work

Received date: 2024-12-22

  Accepted date: 2025-05-26

  Online published: 2025-07-25

Supported by

National Natural Science Foundation of China: Establishment and Validation of a High-throughput Screening System for Traditional Chinese Medicine Against Dry Eye Disease based on transforming growth factor-βand B-cell lymphoma-2(81574031);2023 Hunan Provincial Department of Education Scientific Research Project: Yiguanjian Decoction Regulates Th17/Treg Cell Balance and Its Intervention Mechanism in Dry Eye with Liver Yin Deficiency Syndrome(23A0300)

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Abstract

OBJECTIVE: To utilize the Traditional Chinese Medicine constitution (TCMC) as a complementary and alternative approach for early disease detection and treatment, with a focus on Yin and Yang deficiency constitutions, which serve as key references for disease prevention and management.

METHODS: The dataset containing the data of Yin and Yang deficiency constitution was identified through the Gene Expression Omnibus database. This database was used for differential expression genes (DEGs) analysis and weighted gene co-expression network analysis (WGCNA), and the characteristic genes were then obtained in the dataset using a machine learning method. The hub genes of Yin and Yang deficiency constitution were obtained after analysis using the above three methods, and the hub genes were enriched and analyzed. Subsequently, the hub genes of Yin and Yang deficiency constitution were validated using external datasets. Receiver operating characteristic (ROC) analysis was used on each hub genes of the two groups to further understand their diagnostic performance. The miRNA-lncRNA-gene network was used to further analyze the hub genes. Immunoinfiltration and gene set enrichment analysis were performed on the shared hub genes.

RESULTS: The GSE87474 dataset was used for DEGs analysis and WGCNA. Using machine learning analyses, we identified 15 and 14 hub genes for Yin and Yang deficiency constitutions, respectively. The results of enrichment analyses showed that Yin deficiency constitution was associated with interleukin-17 signaling pathway, whereas Yang deficiency constitution was associated with glycosaminoglycan biosynthesis-keratan sulfate. The validation dataset GSE56116 showed statistically significant data for s-adenosylmethionine sensor upstream of MTORC1 (SAMTOR, also named C7orf60), cofilin 2 (CFL2), cytohesin 1 interacting protein (CYTIP), G protein-coupled receptor 183 (GPR183), hippocampus abundant transcript 1 (HIAT1), kelch like family member 15 (KLHL15), mitogen-activated protein kinase 6 (MAPK6), and prostaglandin-endoperoxide synthase 2 (PTGS2) in Yin deficiency and fucosy-ltransferase 8 (FUT8), TATA-box binding protein associated factor, RNA polymerase I subunit D (TAF1D), zinc finger protein 24 (ZNF24), MAPK6, and leptin receptor overlapping transcript like 1 (LEPROTL1) in Yang deficiency. The ROC results indicated that these genes have diagnostic value. MAPK6 is a shared hub gene for Yin and Yang deficiencies.

CONCLUSIONS: This study identified C7orf60, CFL2, CYTIP, GPR183, HIAT1, KLHL15, MAPK6, and PTGS2 in Yin deficiency and FUT8, TAF1D, ZNF24, MAPK6, and LEPROTL1 in Yang deficiency as potential biomarkers, providing insights into their pathogenesis. This theory not only guides the diagnostic approach in TCM but also extends its influence to various scientific research fields.

Key words： Traditional Chinese Medicine constitution; Yin deficiency; Yang deficiency; mitogen-activated protein kinase 6; characteristic genes

Cite this article

Xi LONG , Zixuan WU , Yunfeng YU , Jie LIN , Qinghua PENG . Identification of characteristic genes of Yin and Yang deficiency constitutions: an integrated analysis based on bioinformatics and machine learning[J]. Journal of Traditional Chinese Medicine, 2025 , 45(4) : 909 -921 . DOI: 10.19852/j.cnki.jtcm.2025.04.021

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