ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1554139

This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 19 articles

Shared Pathogenesis in Polycystic Ovaries and Rheumatoid Arthritis: An Analysis of Key Genes and Pathways

Provisionally accepted
Yingying  JiYingying Ji1Pengcheng  XiaPengcheng Xia1Yan  WangYan Wang1Yang  LiuYang Liu1Feng  WangFeng Wang1Fenggang  SunFenggang Sun2Qiang  FengQiang Feng1Qingbin  NiQingbin Ni1*Yi  LiYi Li1*
  • 1Tai'an City Central Hospital, Tai’an, China
  • 2Shandong First Medical University, Tai'an, Shandong, China

The final, formatted version of the article will be published soon.

Objective: The study aims to explore the potential shared pathogenic processes between PCOS and RA through bioinformatics analysis to identify novel therapeutic targets and biomarkers for disease management.Methods: Microarray datasets for polycystic ovary and RA were obtained from the GEO database.Differential gene expression analysis identified commonly dysregulated genes in both conditions.Gene Ontology (GO) and KEGG pathway enrichment analyses were performed to understand the biological processes and pathways associated with the differentially expressed genes (DEGs).Protein interaction analysis, machine learning algorithms, and validation analyses were employed to identify core genes with potential diagnostic value. Immune cell infiltration analysis and evaluation of hypoxia and angiogenesis scores were conducted to assess the role of the core genes in immune-related disorders.Results: Microarray analysis identified differentially expressed genes (DEGs) commonly dysregulated in PCOS and RA. GO and KEGG enrichment analyses highlighted the involvement of cell death, inflammation, and redox pathways. Ten key genes were identified through protein interaction analysis, and machine learning further narrowed it down to six core genes: CSTA, DPH3, CAPZA2, GLRX, CD58, and IFIT1. The core genes were overexpressed in PCOS and RA tissues, suggesting their potential involvement in disease development. Validation analyses confirmed the diagnostic potential of these genes, especially in RA. Immune cell infiltration analysis correlated the expression of core genes with neutrophil and CD8+ T cell infiltration. Hypoxia and angiogenesis scores indicated the significance of these genes in immune-related disorders.The study unveils potential molecular links between PCOS and RA, highlighting the importance of immune dysregulation in their pathogenesis. The identified core genes offer novel therapeutic targets and potential biomarkers for disease management, providing insights into the complex interplay between these two seemingly unrelated conditions.

Keywords: pcos, ra, Bioinformatics analysis, core genes, Immune dysregulation

Received: 01 Jan 2025; Accepted: 11 Jun 2025.

Copyright: © 2025 Ji, Xia, Wang, Liu, Wang, Sun, Feng, Ni and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Qingbin Ni, Tai'an City Central Hospital, Tai’an, China
Yi Li, Tai'an City Central Hospital, Tai’an, China

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