Development and Validation of the Diagnostic Model of 7 Gene in Endometriosis

article OA: closed CC0 ⤵ 2 in-corpus citations
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-07-20 ⓘ

This study identified seven core targets and constructed a diagnostic model with high accuracy for endometriosis, revealing correlations with immune characteristics, metabolic pathways, and potential drug targets.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by qwen3.7-flash, 2026-09-01 · read from full text ⓘ

This study utilized transcriptome data from the GSE145701 dataset to identify and validate a seven-gene diagnostic model for endometriosis through weighted gene correlation network analysis and differential expression profiling. The researchers constructed a protein-protein interaction network to select core targets, confirming their diagnostic robustness using independent datasets and evaluating associations with immune characteristics and drug docking affinities. Key findings indicated that genes such as CTSK, HGF, and FN1 were linked to inflammation and energy metabolism pathways, while in vitro experiments demonstrated that FN1 expression decreased in response to Esmya treatment. This paper is centrally about endometriosis — specifically focusing on the development of a multi-gene biomarker panel for diagnosis and potential therapeutic targeting.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Abstract

AIMS: To explore the diagnostic biomarkers for diagnosing endometriosis. BACKGROUND: Endometriosis is a benign, progressive, estrogen-dependent gynecological disorder that has highly variant prevalence. Therefore, it is essential to develop reliable diagnostic biomarkers for endometriosis diagnosis. OBJECTIVE: To explore the diagnostic biomarkers for endometriosis diagnosis. METHODS: Based on transcriptome data from GSE145701, we identified potential therapeutic targets through the intersection of endometriosis-related genes from weighted gene correlation network analysis (WGCNA) and differential expression analysis. Aprotein-protein interaction (PPI) was constructed. Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) were employed for functional enrichment analysis. The intersection of hub genes from topological analysis and module genes from module-based network analysis were selected as core targets, which were used for diagnostic model construction. Its robustness was validated using GSE7305 and GSE134056. Associations of core targets with immune characteristics and pathways were further evaluated. Molecular docking was employed to evaluate the docking affinity between core targets and drugs. Additionally, western blot and quantitative real-time polymerase chain reaction were also carried out to validate molecular docking results. RESULTS: A diagnostic model was constructed using 7 core targets, which had a high diagnostic ability for endometriosis. CTSK was positively correlated with immune scores, while CDH2 was negatively correlated with immune scores. CTSK, HGF, and EPCAM were positively correlated with energy metabolism and inflammation-related pathways, while RUNX2, FN1, NCAM1, and CDH2 were positively correlated with epithelial-to-mesenchymal transition (EMT) and unfolded protein response (UPR). Moreover, FN1 had good docking affinity with Elagolix, Esmya, and Proellex. NCAM1 might be a promising target modulated by Elagolix. In vitro experiment revealed that the expression of FN1 in human normal endometrial cell lines (hEEC) gradually decreased with the increase of Esmya concentration, indicating that FN1 was a target for Esmya. CONCLUSION: These results may facilitate the in-depth understanding of the development of endometriosis, and guide early diagnostic as well as clinical treatments for patients with endometriosis.
Full text 5,249 characters · extracted from oa-doi-fallback · 7 sections · click to expand

Abstract

Aims: To explore the diagnostic biomarkers for diagnosing endometriosis.

Background

Endometriosis is a benign, progressive, estrogen-dependent gynecological disorder that has highly variant prevalence. Therefore, it is essential to develop reliable diagnostic biomarkers for endometriosis diagnosis.

Objective

To explore the diagnostic biomarkers for endometriosis diagnosis.

Methods

Based on transcriptome data from GSE145701, we identified potential therapeutic targets through the intersection of endometriosis-related genes from weighted gene correlation network analysis (WGCNA) and differential expression analysis. Aprotein-protein interaction (PPI) was constructed. Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) were employed for functional enrichment analysis. The intersection of hub genes from topological analysis and module genes from module-based network analysis were selected as core targets, which were used for diagnostic model construction. Its robustness was validated using GSE7305 and GSE134056. Associations of core targets with immune characteristics and pathways were further evaluated. Molecular docking was employed to evaluate the docking affinity between core targets and drugs. Additionally, western blot and quantitative real-time polymerase chain reaction were also carried out to validate molecular docking results.

Results

A diagnostic model was constructed using 7 core targets, which had a high diagnostic ability for endometriosis. CTSK was positively correlated with immune scores, while CDH2 was negatively correlated with immune scores. CTSK, HGF, and EPCAM were positively correlated with energy metabolism and inflammation-related pathways, while RUNX2, FN1, NCAM1, and CDH2 were positively correlated with epithelial-to-mesenchymal transition (EMT) and unfolded protein response (UPR). Moreover, FN1 had good docking affinity with Elagolix, Esmya, and Proellex. NCAM1 might be a promising target modulated by Elagolix. In vitro experiment revealed that the expression of FN1 in human normal endometrial cell lines (hEEC) gradually decreased with the increase of Esmya concentration, indicating that FN1 was a target for Esmya.

Conclusion

These results may facilitate the in-depth understanding of the development of endometriosis, and guide early diagnostic as well as clinical treatments for patients with endometriosis.

Keywords

Endometriosis, diagnosis, protein-protein interactions network, module-based network analysis, topological analysis, molecular docking. [http://dx.doi.org/10.3390/ijms221910554] [PMID: 34638893] [http://dx.doi.org/10.3390/medicina56090460] [PMID: 32916976] [http://dx.doi.org/10.1007/s12325-018-0667-3] [PMID: 29450864] [http://dx.doi.org/10.1016/j.jmig.2019.11.018] [PMID: 31816389] [http://dx.doi.org/10.1002/ijgo.12521] [PMID: 29729099] [http://dx.doi.org/10.1080/13697137.2019.1578743] [PMID: 30905186] [http://dx.doi.org/10.1016/j.ajog.2018.12.039] [http://dx.doi.org/10.32604/oncologie.2022.024951] [http://dx.doi.org/10.32604/oncologie.2022.019236] [http://dx.doi.org/10.32604/oncologie.2022.026419] [http://dx.doi.org/10.1093/humrep/dez116] [PMID: 31411334] [http://dx.doi.org/10.3390/jcm11030612] [PMID: 35160066] [http://dx.doi.org/10.1002/imt2.36] [http://dx.doi.org/10.1186/s12967-018-1577-5] [PMID: 30029648] [http://dx.doi.org/10.1016/j.rbmo.2021.04.002] [PMID: 33992553] [http://dx.doi.org/10.1093/nar/gkv007] [PMID: 25605792] [http://dx.doi.org/10.1186/1471-2105-9-559] [PMID: 19114008] [http://dx.doi.org/10.1093/nar/gkz401] [PMID: 31114916] [http://dx.doi.org/10.1007/978-1-60761-987-1_18] [http://dx.doi.org/10.1038/s41467-019-09234-6] [PMID: 30944313] [http://dx.doi.org/10.1186/s12864-016-2722-2] [PMID: 27357693] [http://dx.doi.org/10.1038/ncomms3612] [PMID: 24113773] [http://dx.doi.org/10.1016/j.celrep.2016.12.019] [PMID: 28052254] [http://dx.doi.org/10.1186/s13059-016-1092-z] [PMID: 27855702] [http://dx.doi.org/10.12688/f1000research.14817.1] [PMID: 31069056] [http://dx.doi.org/10.1016/j.biopha.2023.115792] [PMID: 37924789] [http://dx.doi.org/10.1210/endrev/bnaa012] [PMID: 32365199] [http://dx.doi.org/10.1177/1933719115611752] [PMID: 26482207] [http://dx.doi.org/10.1186/s12905-019-0865-4] [PMID: 31906916] [http://dx.doi.org/10.1016/j.ejogrb.2016.07.500] [PMID: 27541444] [http://dx.doi.org/10.7150/thno.53649] [PMID: 33537076] [http://dx.doi.org/10.1111/jog.14401] [PMID: 32715572] [http://dx.doi.org/10.3389/fonc.2020.01697] [PMID: 33014844] [http://dx.doi.org/10.3389/fmolb.2020.614427] [PMID: 33490107] [http://dx.doi.org/10.1007/s10815-020-01905-4] [PMID: 33029756] [http://dx.doi.org/10.1016/j.ejogrb.2015.08.027] [PMID: 26344352] [http://dx.doi.org/10.1186/s12958-018-0385-3] [PMID: 30021652] [http://dx.doi.org/10.1016/j.jgeb.2017.10.006] [PMID: 30647706] [http://dx.doi.org/10.1152/japplphysiol.00715.2016] [PMID: 27789771] [http://dx.doi.org/10.1530/JOE-13-0397] [PMID: 24323910] [http://dx.doi.org/10.1038/nrclinonc.2018.8] [PMID: 29405201] [http://dx.doi.org/10.18632/oncotarget.16472] [PMID: 28415639] [http://dx.doi.org/10.1038/s41580-020-0250-z] [PMID: 32457508] [http://dx.doi.org/10.1056/NEJMoa1700089] [PMID: 28525302] [http://dx.doi.org/10.1186/s12958-018-0347-9] [PMID: 29615065]

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-doi-fallback ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis

Citation neighborhood (sparse)

Too few in-corpus citations on either side for a chart; here are the lists.

Cited by (2)

Cited by (2)

Source provenance

europepmc
last seen: 2026-10-05T06:18:27.067365+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-05T06:16:46.810410+00:00
unpaywall
last seen: 2026-10-05T06:32:29.880811+00:00
License: CC0 · commercial use OK