Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study

Background: Polycystic ovarian syndrome (PCOS) is a common endocrine and metabolic disorder in women of reproductive age. In this study, we aimed to investigate the potential prognostic value of mitophagy-related genes in PCOS patients and to analyze their role in immune infiltration during PCOS pat...

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Main Authors: Hongjuan Ye, Xicheng Wang, Zhiying He
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Heliyon
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Online Access:http://www.sciencedirect.com/science/article/pii/S2405844025005821
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author Hongjuan Ye
Xicheng Wang
Zhiying He
author_facet Hongjuan Ye
Xicheng Wang
Zhiying He
author_sort Hongjuan Ye
collection DOAJ
description Background: Polycystic ovarian syndrome (PCOS) is a common endocrine and metabolic disorder in women of reproductive age. In this study, we aimed to investigate the potential prognostic value of mitophagy-related genes in PCOS patients and to analyze their role in immune infiltration during PCOS pathogenesis and progression. Methods: Training datasets were used for differential expression genes. Gene ontology annotations and Kyoto encyclopedia of genes and genomes signaling pathway enrichment analysis were performed. The potential biomarkers of mitophagy-related and immune infiltration in PCOS were screened by protein-protein interaction network using different algorithms, and the area under the curve was calculated to analyze their diagnostic value. The test datasets were used to validate the expression of hub genes, and receiver operating characteristic curves were used to evaluate the predictive effect of hub genes. Results: Five hub genes: CTSD, IGF2R, ATP13A2, NAPA and GRN were identified as the potential diagnostic biomarkers of immune-mitophagy-related PCOS through five algorithms. GRN and NAPA were validated to be significantly different in oocytes and granulosa cells between primary and secondary follicles, respectively. Based on the single sample Gene Set Enrichment Analysis score, the infiltration of 4 immune cell types in PCOS was associated with PCOS and mitophagy. Specifically, the hub gene GRN showed a positive correlation with monocytes and plasmacytoid dendritic cells, while hub gene NAPA was negatively correlated with gamma delta T cell. Conclusions: The current study identified immune-mitophagy-related hub genes for prognostic biomarkers of PCOS, which provided an innovative insight for the prevention and treatment of PCOS.
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spelling doaj-art-168e8cd3b85742ff948d08e1f2eeb1302025-01-26T05:04:17ZengElsevierHeliyon2405-84402025-02-01113e42202Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic studyHongjuan Ye0Xicheng Wang1Zhiying He2Institute for Regenerative Medicine, Shanghai East Hospital, School of Life Sciences and Technology Tongji University, Shanghai, 200123, China; Corresponding author.Institute for Regenerative Medicine, Shanghai East Hospital, School of Life Sciences and Technology Tongji University, Shanghai, 200123, ChinaInstitute for Regenerative Medicine, Shanghai East Hospital, School of Life Sciences and Technology Tongji University, Shanghai, 200123, China; Shanghai Engineering Research Center of Stem Cells Translational Medicine, Shanghai, 200335, China; Corresponding author. Institute for Regenerative Medicine, Shanghai East Hospital, School of Life Sciences and Technology Tongji University, Shanghai, 200123, China.Background: Polycystic ovarian syndrome (PCOS) is a common endocrine and metabolic disorder in women of reproductive age. In this study, we aimed to investigate the potential prognostic value of mitophagy-related genes in PCOS patients and to analyze their role in immune infiltration during PCOS pathogenesis and progression. Methods: Training datasets were used for differential expression genes. Gene ontology annotations and Kyoto encyclopedia of genes and genomes signaling pathway enrichment analysis were performed. The potential biomarkers of mitophagy-related and immune infiltration in PCOS were screened by protein-protein interaction network using different algorithms, and the area under the curve was calculated to analyze their diagnostic value. The test datasets were used to validate the expression of hub genes, and receiver operating characteristic curves were used to evaluate the predictive effect of hub genes. Results: Five hub genes: CTSD, IGF2R, ATP13A2, NAPA and GRN were identified as the potential diagnostic biomarkers of immune-mitophagy-related PCOS through five algorithms. GRN and NAPA were validated to be significantly different in oocytes and granulosa cells between primary and secondary follicles, respectively. Based on the single sample Gene Set Enrichment Analysis score, the infiltration of 4 immune cell types in PCOS was associated with PCOS and mitophagy. Specifically, the hub gene GRN showed a positive correlation with monocytes and plasmacytoid dendritic cells, while hub gene NAPA was negatively correlated with gamma delta T cell. Conclusions: The current study identified immune-mitophagy-related hub genes for prognostic biomarkers of PCOS, which provided an innovative insight for the prevention and treatment of PCOS.http://www.sciencedirect.com/science/article/pii/S2405844025005821Polycystic ovarian syndromeMitophagyImmune infiltrationBiomarkers
spellingShingle Hongjuan Ye
Xicheng Wang
Zhiying He
Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
Heliyon
Polycystic ovarian syndrome
Mitophagy
Immune infiltration
Biomarkers
title Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
title_full Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
title_fullStr Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
title_full_unstemmed Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
title_short Identification of mitophagy-related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
title_sort identification of mitophagy related biomarkers and immune infiltration in polycystic ovarian syndrome by bioinformatic study
topic Polycystic ovarian syndrome
Mitophagy
Immune infiltration
Biomarkers
url http://www.sciencedirect.com/science/article/pii/S2405844025005821
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AT xichengwang identificationofmitophagyrelatedbiomarkersandimmuneinfiltrationinpolycysticovariansyndromebybioinformaticstudy
AT zhiyinghe identificationofmitophagyrelatedbiomarkersandimmuneinfiltrationinpolycysticovariansyndromebybioinformaticstudy