Identification and Validation of Genes Involved in Energy Metabolism in Polycystic Ovary Syndrome.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:40860051", "kind": "science-record", "revision": 3, "content_hash": "sha256:127f411123c71f910a6176843e5bb11916feeaa4a0a3323f20e80ed334ee05d7", "created_at": "2026-11-01T20:30:58Z", "updated_at": "2026-11-01T22:14:38Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Identification and Validation of Genes Involved in Energy Metabolism in Polycystic Ovary Syndrome.", "doi": "10.30498/ijb.2025.514574.4102", "pmid": "40860051", "authors": ["Jinglei Zhang", "Huiying Jie", "Qingyun Mai", "Lin Chen", "Canquan Zhou"], "journal": "Iranian journal of biotechnology", "year": 2025, "abstract": "Background: Metabolic dysregulation plays a critical role in polycystic ovary syndrome (PCOS), yet the involvement of energy metabolism-related genes (ERGs) remains incompletely understood. This study employs integrative bioinformatics and experimental validation to identify key ERGs as potential biomarkers and therapeutic targets in PCOS.\nObjectives: This study aimed to screen and validate ERGs associated with PCOS by integrating gene expression datasets (GSE34526 and GSE193123) and to explore their molecular mechanisms and therapeutic implications.\nMaterials and Methods: Differentially expressed genes (DEGs) were identified from two GEO datasets and intersected with ERGs from the Reactome database. Functional enrichment, subcellular localization, transcriptional and post-transcriptional regulatory networks, and drug prediction analyses were performed. Clinical validation of candidate biomarkers was conducted using RT-qPCR on granulosa cells from PCOS patients and controls.\nResults: A total of 159 common DEGs were identified, including three key biomarkers: CD44 (upregulated), HS2ST1, and GPC4 (downregulated). CD44 was localized primarily to the plasma membrane, while HS2ST1 and GPC4 were localized to the Golgi apparatus and nucleus/plasma membrane, respectively. Regulatory network analyses revealed multiple transcription factors, kinases, and miRNAs associated with these biomarkers. Drug prediction identified bisphenol A as a compound linked to all three genes. RT-qPCR confirmed significant upregulation of CD44 in clinical PCOS samples (P<0.05).\nConclusion: This study identifies and validates three ERG-associated biomarkers with potential diagnostic and therapeutic utility in PCOS. The integration of bioinformatics and clinical validation underscores the translational relevance of these findings for advancing biotechnological applications in PCOS management.", "claims": [{"id": "claim-method", "statement": "The non-parametric test analysis of CD44, GPC4 and HS1ST2 in PCOS group (PCOS) and control group (CON) found that: The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40860051", "locator": "sections[25] \"4.6. Results of Mrna Expression Levels of Differential Genes\" paragraph 2", "quote": "The non-parametric test analysis of CD44, GPC4 and HS1ST2 in PCOS group (PCOS) and control group (CON) found that: The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The datasets that support the findings of this study are available in https://www.ncbi.nlm.nih.gov/geo/", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40860051", "locator": "sections[31] \"Availability of data and material\" paragraph 2", "quote": "The datasets that support the findings of this study are available in https://www.ncbi.nlm.nih.gov/geo/"}], "state": "complete"}, {"id": "claim-target-result", "statement": "The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181.", "kind": "quantitative", "target": {"value": 0.0079, "unit": "p-value", "tolerance": null, "source": "The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181."}, "evidence": [{"asset": "source:pmid:40860051", "locator": "sections[25] \"4.6. Results of Mrna Expression Levels of Differential Genes\" paragraph 2", "quote": "The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "partial", "objective": "The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:40860051"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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RT-qPCR confirmed significant upregulation of CD44 i", "candidate biomarkers was conducted using RT-qPCR on granulosa cells from PCOS patients and co", "as a compound linked to all three genes. RT-qPCR confirmed significant upregulation of CD44 i"], "order_basis": "paper_text_order:985", "id": "assay:1"}, {"role": "analysis", "definition_id": "group_comparison", "definition_version": "f2132e96ae6c7a4e", "definition_digest": null, "required_operations": [], "support_state": "partial", "source_hashes": {"dsl_catalogue": "f2132e96ae6c7a4e"}, "confidence": 1.0, "evidence": ["The non-parametric test analysis of CD44, GPC4 and HS1ST2 in PCOS group (PCOS) and control group (CON) found that: The expression of CD44 (Fig. 7A) was significantly up-regulated in PCOS group (median PCOS=0.8976 vs. CON=0.3622, P=0.0079, two-sided Mann-Whitney U test), the actual median difference was 0.5354, and the Hodges-Lehmann effect size was 0.4181."], "order_basis": "consumes_earlier_output", "id": "assay:2"}]}