Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis

Abstract Endometriosis (EM) is a chronic disease that can cause pain and infertility in patients. As is well known, immune cell infiltrations (ICIs) play important roles in the pathogenesis of EM. However, the pathogenesis and biomarkers of EM that can be used in clinical practice and their relation...

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Main Authors: Kang Li, Jiaxu Wang, Xuyue Liu, Yifei Dang, Kaiting Wang, Manyu Li, Xiaoli Zhang, Yuan Liu
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-86164-y
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author Kang Li
Jiaxu Wang
Xuyue Liu
Yifei Dang
Kaiting Wang
Manyu Li
Xiaoli Zhang
Yuan Liu
author_facet Kang Li
Jiaxu Wang
Xuyue Liu
Yifei Dang
Kaiting Wang
Manyu Li
Xiaoli Zhang
Yuan Liu
author_sort Kang Li
collection DOAJ
description Abstract Endometriosis (EM) is a chronic disease that can cause pain and infertility in patients. As is well known, immune cell infiltrations (ICIs) play important roles in the pathogenesis of EM. However, the pathogenesis and biomarkers of EM that can be used in clinical practice and their relationship with ICIs still need to be elucidated. The gene expression datasets of EM and the healthy control were obtained from the Gene Expression Omnibus (GEO). To identify the central modules and explore the correlation between the gene network and EM, weighted gene co-expression network analysis (WGCNA) was executed. The hub genes were screened using machine learning. The qRT-PCR results showed that only CHMP4C and KAT2B differentially expressed in ectopic tissues compared to the normal. Subsequently, the samples were clustered based on the expression of CHMP4C and KAT2B. Depending on the differential expression genes of the two 2rG Clusters, the samples were divided into two gene Clusters. Significant differences in immune cell infiltrations were observed among the two 2rG Clusters and the two gene Clusters. Furthermore, varied immune checkpoint genes were shown to be correlated with EM. The qRT-PCR results showed that the two genes were significantly related to the ICI genes in EM. Hub genes CHMP4C and KAT2B are involved in the pathogenesis of EM by regulating ICI.
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spelling doaj-art-3e6ca4cd02d94dab87ba658ff6e1029b2025-01-26T12:25:42ZengNature PortfolioScientific Reports2045-23222025-01-0115111410.1038/s41598-025-86164-yIdentification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosisKang Li0Jiaxu Wang1Xuyue Liu2Yifei Dang3Kaiting Wang4Manyu Li5Xiaoli Zhang6Yuan Liu7Key Laboratory for Experimental Teratology of Ministry of Education, Department of Histology & Embryology, School of Basic Medical Sciences, Shandong UniversityKey Laboratory for Experimental Teratology of Ministry of Education, Department of Histology & Embryology, School of Basic Medical Sciences, Shandong UniversityKey Laboratory for Experimental Teratology of Ministry of Education, Department of Histology & Embryology, School of Basic Medical Sciences, Shandong UniversityDepartment of Gynecology & Obstetrics, Qilu Hospital of Shandong UniversityDepartment of Gynecology & Obstetrics, Qilu Hospital of Shandong UniversityDepartment of Gynecology & Obstetrics, Qilu Hospital of Shandong UniversityKey Laboratory for Experimental Teratology of Ministry of Education, Department of Histology & Embryology, School of Basic Medical Sciences, Shandong UniversityDepartment of Gynecology & Obstetrics, Qilu Hospital of Shandong UniversityAbstract Endometriosis (EM) is a chronic disease that can cause pain and infertility in patients. As is well known, immune cell infiltrations (ICIs) play important roles in the pathogenesis of EM. However, the pathogenesis and biomarkers of EM that can be used in clinical practice and their relationship with ICIs still need to be elucidated. The gene expression datasets of EM and the healthy control were obtained from the Gene Expression Omnibus (GEO). To identify the central modules and explore the correlation between the gene network and EM, weighted gene co-expression network analysis (WGCNA) was executed. The hub genes were screened using machine learning. The qRT-PCR results showed that only CHMP4C and KAT2B differentially expressed in ectopic tissues compared to the normal. Subsequently, the samples were clustered based on the expression of CHMP4C and KAT2B. Depending on the differential expression genes of the two 2rG Clusters, the samples were divided into two gene Clusters. Significant differences in immune cell infiltrations were observed among the two 2rG Clusters and the two gene Clusters. Furthermore, varied immune checkpoint genes were shown to be correlated with EM. The qRT-PCR results showed that the two genes were significantly related to the ICI genes in EM. Hub genes CHMP4C and KAT2B are involved in the pathogenesis of EM by regulating ICI.https://doi.org/10.1038/s41598-025-86164-yEndometriosisBioinformaticsImmune cell infiltrationHub genesSubtype
spellingShingle Kang Li
Jiaxu Wang
Xuyue Liu
Yifei Dang
Kaiting Wang
Manyu Li
Xiaoli Zhang
Yuan Liu
Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
Scientific Reports
Endometriosis
Bioinformatics
Immune cell infiltration
Hub genes
Subtype
title Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
title_full Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
title_fullStr Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
title_full_unstemmed Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
title_short Identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
title_sort identification of hub biomarkers and immune cell infiltrations participating in the pathogenesis of endometriosis
topic Endometriosis
Bioinformatics
Immune cell infiltration
Hub genes
Subtype
url https://doi.org/10.1038/s41598-025-86164-y
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