{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T12:14:30Z","timestamp":1789733670069,"version":"4.0.1"},"reference-count":82,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:00:00Z","timestamp":1754438400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Backgroud. Endometriosis is a chronic, estrogen-dependent inflammatory disease characterized by the ectopic presence of endometrial-like tissue. Although genome-wide association studies (GWAS) have identified susceptibility variants, their tissue-specific regulatory impact remains poorly understood. Objective. To functionally characterize endometriosis-associated variants by exploring their regulatory effects as expression quantitative trait loci (eQTLs) across six physiologically relevant tissues: peripheral blood, sigmoid colon, ileum, ovary, uterus, and vagina. Methods. GWAS-identified variants were cross-referenced with tissue-specific eQTL data from the GTEx v8 database. We prioritized genes either frequently regulated by eQTLs or showing the strongest regulatory effects (based on slope values, which indicate the direction and magnitude of the effect on gene expression). Functional interpretation was performed using MSigDB Hallmark gene sets and Cancer Hallmarks gene collections. Results. A tissue specificity was observed in the regulatory profiles of eQTL-associated genes. In the colon, ileum, and peripheral blood, immune and epithelial signaling genes predominated. In contrast, reproductive tissues showed the enrichment of genes involved in hormonal response, tissue remodeling, and adhesion. Key regulators such as MICB, CLDN23, and GATA4 were consistently linked to hallmark pathways, including immune evasion, angiogenesis, and proliferative signaling. Notably, a substantial subset of regulated genes was not associated with any known pathway, indicating potential novel regulatory mechanisms. Conclusions. This integrative approach highlights the com-plexity of tissue-specific gene regulation mediated by endometriosis-associated variants. Our findings provide a functional framework to prioritize candidate genes and support new mechanistic hypotheses for the molecular pathophysiology of endometriosis.<\/jats:p>","DOI":"10.3390\/diseases13080248","type":"journal-article","created":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T07:45:11Z","timestamp":1754466311000},"page":"248","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Regulatory Effects of Endometriosis-Associated Genetic Variants: A Multi-Tissue eQTL Analysis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9788-1106","authenticated-orcid":false,"given":"Asbiel Felipe","family":"Garibaldi-R\u00edos","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Centro M\u00e9dico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3185-8910","authenticated-orcid":false,"given":"Perla Graciela","family":"Rodr\u00edguez-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Centro M\u00e9dico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas Magdiel","family":"Garc\u00eda-D\u00edaz","sequence":"additional","affiliation":[{"name":"Unidad de Biotecnolog\u00eda M\u00e9dica y Farmac\u00e9utica, Centro de Investigaci\u00f3n y Asistencia en Tecnolog\u00eda y Dise\u00f1o del Estado de Jalisco, Guadalajara 44270, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1257-4637","authenticated-orcid":false,"given":"Guillermo Mois\u00e9s","family":"Z\u00fa\u00f1iga-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Medicina Molecular, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Centro M\u00e9dico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6096-4579","authenticated-orcid":false,"given":"Luis E.","family":"Figuera","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Centro M\u00e9dico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2774-6390","authenticated-orcid":false,"given":"Belinda Claudia","family":"G\u00f3mez-Meda","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular y Gen\u00f3mica, Instituto de Gen\u00e9tica Humana \u201cDr. Enrique Corona Rivera\u201d, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Mar\u00eda","family":"Puebla-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunofarmacolog\u00eda, Centro Universitario de Ciencias Exactas e Ingenier\u00edas, Universidad de Guadalajara (UdeG), Guadalajara 44430, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid Patricia","family":"D\u00e1valos-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Centro M\u00e9dico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2233-571X","authenticated-orcid":false,"given":"Blanca Miriam","family":"Torres-Mendoza","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunodeficiencias y Retrovirus Humanos, Divisi\u00f3n de Neurociencias, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"},{"name":"Departamento de Cl\u00ednicas M\u00e9dicas, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6174-0609","authenticated-orcid":false,"given":"Itzae Adonai","family":"Guti\u00e9rrez-Hurtado","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular y Gen\u00f3mica, Instituto de Gen\u00e9tica Humana \u201cDr. Enrique Corona Rivera\u201d, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4539-1693","authenticated-orcid":false,"given":"Martha Patricia","family":"Gallegos-Arreola","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Centro M\u00e9dico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e070750","DOI":"10.1136\/bmj-2022-070750","article-title":"Pathophysiology, Diagnosis, and Management of Endometriosis","volume":"379","author":"Horne","year":"2022","journal-title":"BMJ"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Lamceva, J., Uljanovs, R., and Strumfa, I. (2023). The Main Theories on the Pathogenesis of Endometriosis. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24054254"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"E363","DOI":"10.1503\/cmaj.220637","article-title":"Diagnosis and Management of Endometriosis","volume":"195","author":"Allaire","year":"2023","journal-title":"CMAJ"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1016\/j.fertnstert.2023.03.006","article-title":"Endometriosis and Adenomyosis: Shared Pathophysiology","volume":"119","author":"Bulun","year":"2023","journal-title":"Fertil. Steril."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"53","DOI":"10.5468\/ogs.2015.58.1.53","article-title":"Various Anatomic Locations of Surgically Proven Endometriosis: A Single-Center Experience","volume":"58","author":"Lee","year":"2015","journal-title":"Obs. Gynecol. Sci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.52054\/FVVO.13.4.046","article-title":"Diagnosis and Treatment of Uncommon Ileal Endometriosis: A Case Report and Literature Review","volume":"13","author":"Mabrouk","year":"2021","journal-title":"Facts Views Vis. Obgyn"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.bpobgyn.2020.05.009","article-title":"Pathogenesis of Bowel Endometriosis","volume":"71","author":"Yong","year":"2021","journal-title":"Best Pract. Res. Clin. Obstet. Gynaecol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1186\/s12978-018-0506-7","article-title":"A Review of the Risk Factors, Genetics and Treatment of Endometriosis in Chinese Women: A Comparative Update","volume":"15","author":"Dai","year":"2018","journal-title":"Reprod. Health"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1093\/humupd\/dmu015","article-title":"Genetic Variants Underlying Risk of Endometriosis: Insights from Meta-Analysis of Eight Genome-Wide Association and Replication Datasets","volume":"20","author":"Rahmioglu","year":"2014","journal-title":"Hum. Reprod. Update"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Albertsen, H.M., Chettier, R., Farrington, P., and Ward, K. (2013). Genome-Wide Association Study Link Novel Loci to Endometriosis. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0058257"},{"key":"ref_11","unstructured":"(2020). The GTEx Consortium The GTEx Consortium Atlas of Genetic Regulatory Effects across Human Tissues. Science, 369, 1318\u20131330."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"D998","DOI":"10.1093\/nar\/gkae1070","article-title":"The NHGRI-EBI GWAS Catalog: Standards for Reusability, Sustainability and Diversity","volume":"53","author":"Cerezo","year":"2025","journal-title":"Nucleic Acids Res."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"McLaren, W., Gil, L., Hunt, S.E., Riat, H.S., Ritchie, G.R.S., Thormann, A., Flicek, P., and Cunningham, F. (2016). The Ensembl Variant Effect Predictor. Genome Biol., 17.","DOI":"10.1186\/s13059-016-0974-4"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"101065","DOI":"10.1016\/j.jpha.2024.101065","article-title":"A Gene Set Enrichment Analysis for Cancer Hallmarks","volume":"15","author":"Menyhart","year":"2025","journal-title":"J. Pharm. Anal."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ejogrb.2020.10.017","article-title":"Systematic Review of Genome-Wide Association Studies on Susceptibility to Endometriosis","volume":"255","author":"Cardoso","year":"2020","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1095\/biolreprod.114.126458","article-title":"Identifying the Biological Basis of GWAS Hits for Endometriosis1","volume":"92","author":"Fung","year":"2015","journal-title":"Biol. Reprod."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Lalami, I., Abo, C., Borghese, B., Chapron, C., and Vaiman, D. (2021). Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22147297"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Guare, L.A., Das, J., Caruth, L., Rajagopalan, A., Akerele, A.T., Brumpton, B.M., Chen, T.-T., Kottyan, L., Lin, Y.-F., and Moreno, E. (2024). Expanding the Genetic Landscape of Endometriosis: Integrative-Omics Analyses Uncover Key Pathways from a Multi-Ancestry Study of over 900,000 Women 2024. medRxiv.","DOI":"10.1101\/2024.11.26.24316723"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Edwards, T.L., Giri, A., Hellwege, J.N., Hartmann, K.E., Stewart, E.A., Jeff, J.M., Bray, M.J., Pendergrass, S.A., Torstenson, E.S., and Keaton, J.M. (2019). A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.00511"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.fertnstert.2015.09.023","article-title":"Evidence of a Genetic Link between Endometriosis and Ovarian Cancer","volume":"105","author":"Lee","year":"2016","journal-title":"Fertil. Steril."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Dai, Y., Liu, X., Zhu, Y., Mao, S., Yang, J., and Zhu, L. (2022). Exploring Potential Causal Genes for Uterine Leiomyomas: A Summary Data-Based Mendelian Randomization and FUMA Analysis. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.890007"},{"key":"ref_22","first-page":"1107","article-title":"Genome-Wide Analyses Identify 21 Infertility Loci and over 400 Reproductive Hormone Loci across the Allele Frequency Spectrum","volume":"57","author":"Venkatesh","year":"2025","journal-title":"medRxiv"},{"key":"ref_23","first-page":"111","article-title":"Role of FN1 and GREB1 Gene Polymorphisms in Endometriosis","volume":"20","author":"Matalliotaki","year":"2019","journal-title":"Mol. Med. Rep."},{"key":"ref_24","unstructured":"(2022). Sex Hormone Candidate Gene Polymorphisms Are Associated with Endometriosis. Int. J. Mol. Sci., 23."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Sun, S., Liu, Y., Li, L., Xiong, L., Jiao, M., Yang, J., Li, X., and Liu, W. (2024). Unveiling the Shared Genetic Architecture between Testosterone and Polycystic Ovary Syndrome. Sci. Rep., 14.","DOI":"10.1038\/s41598-024-75816-0"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Adewuyi, E.O., Sapkota, Y., International Endogene Consortium (IEC), 23andMe Research Team, International Headache Genetics Consortium (IHGC), Auta, A., Yoshihara, K., Nyegaard, M., Griffiths, L.R., and Montgomery, G.W. (2020). Shared Molecular Genetic Mechanisms Underlie Endometriosis and Migraine Comorbidity. Genes, 11.","DOI":"10.3390\/genes11030268"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"eabi8654","DOI":"10.1126\/science.abi8654","article-title":"Functional Regulatory Variants Implicate Distinct Transcriptional Networks in Dementia","volume":"377","author":"Cooper","year":"2022","journal-title":"Science"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1038\/s41467-023-37266-6","article-title":"Integrated Analysis of Genomic and Transcriptomic Data for the Discovery of Splice-Associated Variants in Cancer","volume":"14","author":"Cotto","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1038\/s41568-021-00371-z","article-title":"Non-Coding Driver Mutations in Human Cancer","volume":"21","author":"Elliott","year":"2021","journal-title":"Nat. Rev. Cancer"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"R102","DOI":"10.1093\/hmg\/ddv259","article-title":"Non-Coding Genetic Variants in Human Disease","volume":"24","author":"Zhang","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1146\/annurev-genom-091416-035537","article-title":"Gene Regulatory Elements, Major Drivers of Human Disease","volume":"18","author":"Chatterjee","year":"2017","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1007\/s43032-022-01023-9","article-title":"Necroptosis-Related LncRNA Signatures for Prognostic Prediction in Uterine Corpora Endometrial Cancer","volume":"30","author":"Lin","year":"2023","journal-title":"Reprod. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1016\/j.rbmo.2021.02.004","article-title":"Effects of CDKN2B-AS1 on Cellular Proliferation, Invasion and AKT3 Expression Are Attenuated by miR-424-5p in a Model of Ovarian Endometriosis","volume":"42","author":"Wang","year":"2021","journal-title":"Reprod. Biomed. Online"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Yang, D., Ma, J., and Ma, X.-X. (2021). CDKN2B-AS1 Promotes Malignancy as a Novel Prognosis-Related Molecular Marker in the Endometrial Cancer Immune Microenvironment. Front. Cell Dev. Biol., 9.","DOI":"10.3389\/fcell.2021.721676"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"bqab093","DOI":"10.1210\/endocr\/bqab093","article-title":"WNT4 Balances Development vs Disease in Gynecologic Tissues and Women\u2019s Health","volume":"162","author":"Pitzer","year":"2021","journal-title":"Endocrinology"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Kiewisz, J., Wa\u015bniewski, T., Kie\u017cun, J., Skowro\u0144ska, A., Kaczmarek, M.M., Sz\u00f3stak, B., Kowalczyk, A.E., and Kmie\u0107, Z. (2023). WNT4 Gene and Protein Expression in Endometrial Cancer and Its Significance. Cancers, 15.","DOI":"10.3390\/cancers15194780"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Zubrzycka, A., Migdalska-S\u0119k, M., J\u0119drzejczyk, S., and Brzezia\u0144ska-Lasota, E. (2023). The Expression of TGF-\u03921, SMAD3, ILK and miRNA-21 in the Ectopic and Eutopic Endometrium of Women with Endometriosis. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24032453"},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Ramos-Nino, M.E., Obadiah, A.A., Ozugha, I.O., and Ramdass, P.V.A.K. (2025). The Association Between Asthma and Endometriosis: A Systematic Review and Metanalysis. J. Respir., 5.","DOI":"10.3390\/jor5020006"},{"key":"ref_39","first-page":"1","article-title":"Claudin-23 Reshapes Epithelial Tight Junction Architecture to Regulate Barrier Function","volume":"14","author":"Rajagopal","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4287","DOI":"10.1038\/s41467-022-30773-y","article-title":"Genome-Wide Association Study Identifies Sj\u00f6gren\u2019s Risk Loci with Functional Implications in Immune and Glandular Cells","volume":"13","author":"Khatri","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Chakkour, M., and Greenberg, M.L. (2024). Insights into the Roles of Inositol Hexakisphosphate Kinase 1 (IP6K1) in Mammalian Cellular Processes. J. Biol. Chem., 300.","DOI":"10.1016\/j.jbc.2024.107116"},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Xie, M., Li, Y., Meng, Y.-Z., Xu, P., Yang, Y.-G., Dong, S., He, J., and Hu, Z. (2022). Uterine Natural Killer Cells: A Rising Star in Human Pregnancy Regulation. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.918550"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"3649","DOI":"10.1111\/jcmm.17921","article-title":"Digestive System Deep Infiltrating Endometriosis: What Do We Know","volume":"27","author":"Yin","year":"2023","journal-title":"J. Cell. Mol. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1080\/14712598.2021.1862082","article-title":"HLA-Cw6 and Other HLA-C Alleles, as Well as MICB-DT, DDX58, and TYK2 Genetic Variants Associate with Optimal Response to Anti-IL-17A Treatment in Patients with Psoriasis","volume":"21","author":"Morelli","year":"2021","journal-title":"Expert Opin. Biol. Ther."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1007\/s10753-022-01620-5","article-title":"LncRNA HCP5 Participates in the Tregs Functions in Allergic Rhinitis and Drives Airway Mucosal Inflammatory Response in the Nasal Epithelial Cells","volume":"45","author":"Yang","year":"2022","journal-title":"Inflammation"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3408","DOI":"10.2174\/0113816128268130231026054649","article-title":"Silencing MFHAS1 Induces Pyroptosis via the JNK-Activated NF-\u039aB\/Caspase1\/ GSDMD Signal Axis in Breast Cancer","volume":"29","author":"Jin","year":"2023","journal-title":"Curr. Pharm. Des."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Abramiuk, M., Grywalska, E., Ma\u0142kowska, P., Sierawska, O., Hrynkiewicz, R., and Nied\u017awiedzka-Rystwej, P. (2022). The Role of the Immune System in the Development of Endometriosis. Cells, 11.","DOI":"10.3390\/cells11132028"},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Machairiotis, N., Vasilakaki, S., and Thomakos, N. (2021). Inflammatory Mediators and Pain in Endometriosis: A Systematic Review. Biomedicines, 9.","DOI":"10.3390\/biomedicines9010054"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1136\/jclinpath-2020-207346","article-title":"Development of a Genomic Predictive Model for Cholangiocarcinoma Using Copy Number Alteration Data","volume":"75","author":"Tavares","year":"2022","journal-title":"J. Clin. Pathol."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Hu, B., Zhang, D., Zhao, K., Wang, Y., Pei, L., Fu, Q., and Ma, X. (2021). Spotlight on USP4: Structure, Function, and Regulation. Front. Cell Dev. Biol., 9.","DOI":"10.3389\/fcell.2021.595159"},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Ye, P., Jiang, P., Ye, L., Liu, M., Fang, Q., Yu, P., Luo, J., Su, H., and Yang, W. (2025). PRAG1 Condensation Drives Cell Contraction Under Stress. Biomolecules, 15.","DOI":"10.3390\/biom15030379"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ajhg.2019.06.016","article-title":"De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia","volume":"105","author":"Haijes","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1038\/nature14418","article-title":"TP53 Loss Creates Therapeutic Vulnerability in Colorectal Cancer","volume":"520","author":"Liu","year":"2015","journal-title":"Nature"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Gilliam-Vigh, H., Suppli, M.P., Heimb\u00fcrger, S.M.N., Lund, A.B., Knop, F.K., and Ellegaard, A.-M. (2025). Cholesin mRNA Expression in Human Intestinal, Liver, and Adipose Tissues. Nutrients, 17.","DOI":"10.3390\/nu17040619"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"13093","DOI":"10.1038\/s41598-024-64015-6","article-title":"SNX16 Is Required for Hepatocellular Carcinoma Survival via Modulating the EGFR-AKT Signaling Pathway","volume":"14","author":"Yuan","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1007\/s12094-023-03269-4","article-title":"The Role of the Mitochondrial Ribosomal Protein Family in Detecting Hepatocellular Carcinoma and Predicting Prognosis, Immune Features, and Drug Sensitivity","volume":"26","author":"Zhao","year":"2024","journal-title":"Clin. Transl. Oncol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1093\/humrep\/del493","article-title":"Altered Apoptosis and Proliferation in Endometrial Stromal Cells of Women with Adenomyosis","volume":"22","author":"Yang","year":"2007","journal-title":"Hum. Reprod."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S0304-4165(01)00099-X","article-title":"Oxidative Stress Increases MICA and MICB Gene Expression in the Human Colon Carcinoma Cell Line (CaCo-2)","volume":"1526","author":"Yamamoto","year":"2001","journal-title":"Biochim. Et Biophys. Acta (BBA)\u2014Gen. Subj."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1007\/s00432-020-03159-0","article-title":"High MICB Expression as a Biomarker for Good Prognosis of Colorectal Cancer","volume":"146","author":"Feng","year":"2020","journal-title":"J. Cancer Res. Clin. Oncol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.21037\/atm-21-5020","article-title":"Integrative Analysis of Long Non-Coding RNA and Messenger RNA Expression in Toll-like Receptor 4-Primed Mesenchymal Stem Cells of Ankylosing Spondylitis","volume":"9","author":"Li","year":"2021","journal-title":"Ann Transl Med"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1186\/s12935-021-02404-x","article-title":"LncRNA HCP5 as a Potential Therapeutic Target and Prognostic Biomarker for Various Cancers: A Meta-analysis and Bioinformatics Analysis","volume":"21","author":"Hu","year":"2021","journal-title":"Cancer Cell Int."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1095\/biolreprod.110.086850","article-title":"GATA4 Deficiency Impairs Ovarian Function in Adult Mice1","volume":"84","author":"Vetter","year":"2011","journal-title":"Biol. Reprod."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Gul\u00eca, C., Signore, F., Gaffi, M., Gigli, S., Votino, R., Nucciotti, R., Bertacca, L., Zaami, S., Baffa, A., and Santini, E. (2020). Y RNA: An Overview of Their Role as Potential Biomarkers and Molecular Targets in Human Cancers. Cancers, 12.","DOI":"10.3390\/cancers12051238"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Cunningham, G.M., Shen, F., Wu, X., Cantor, E.L., Gardner, L., Philips, S., Jiang, G., Bales, C.L., Tan, Z., and Liu, Y. (2022). The Impact of SBF2 on Taxane-Induced Peripheral Neuropathy. PLOS Genet., 18.","DOI":"10.1371\/journal.pgen.1009968"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2153026","DOI":"10.1080\/01443615.2022.2153026","article-title":"Association between ABO Blood Type and Type I Endometrial Cancer: A Retrospective Study","volume":"43","author":"Wei","year":"2023","journal-title":"J. Obstet. Gynaecol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"e158705","DOI":"10.1172\/JCI158705","article-title":"FAM117B Promotes Gastric Cancer Growth and Drug Resistance by Targeting the KEAP1\/NRF2 Signaling Pathway","volume":"133","author":"Zhou","year":"2023","journal-title":"J. Clin. Invest."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1053\/j.gastro.2023.03.006","article-title":"BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis","volume":"165","author":"Bonjoch","year":"2023","journal-title":"Gastroenterology"},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Giacomini, E., Minetto, S., Li Piani, L., Pagliardini, L., Somigliana, E., and Vigan\u00f2, P. (2021). Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22169033"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1093\/humrep\/deae043","article-title":"Genomic Alterations in Ovarian Endometriosis and Subsequently Diagnosed Ovarian Carcinoma","volume":"39","author":"Linder","year":"2024","journal-title":"Hum. Reprod."},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"Pejovic, T., Cathcart, A.M., Alwaqfi, R., Brooks, M.N., Kelsall, R., and Nezhat, F.R. (2024). Genetic Links between Endometriosis and Endometriosis-Associated Ovarian Cancer\u2014A Narrative Review (Endometriosis-Associated Cancer). Life, 14.","DOI":"10.3390\/life14060704"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/cjp2.317","article-title":"KRAS Mutations and Endometriosis Burden of Disease","volume":"9","author":"Orr","year":"2023","journal-title":"J. Pathol. Clin. Research"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1111\/cas.14871","article-title":"Biological Significance of KRAS Mutant Allele Expression in Ovarian Endometriosis","volume":"112","author":"Yachida","year":"2021","journal-title":"Cancer Sci."},{"key":"ref_73","first-page":"e1939","article-title":"Tumor-Infiltrating Immune Cell Score as an Independent Prognostic Predictor for Endometrial Carcinoma: Insights from a Comprehensive Analysis of the Immune Landscape","volume":"7","author":"Zhang","year":"2024","journal-title":"Cancer Rep."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"55","DOI":"10.2147\/DMSO.S48260","article-title":"Akt\/PKB Activation and Insulin Signaling: A Novel Insulin Signaling Pathway in the Treatment of Type 2 Diabetes","volume":"7","author":"Mackenzie","year":"2014","journal-title":"Diabetes Metab. Syndr. Obes."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1093\/humupd\/dmt010","article-title":"Endometriosis: Hormone Regulation and Clinical Consequences of Chemotaxis and Apoptosis","volume":"19","author":"Reis","year":"2013","journal-title":"Hum. Reprod. Update"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"3512","DOI":"10.7150\/thno.55241","article-title":"Ovarian Hormones-Autophagy-Immunity Axis in Menstruation and Endometriosis","volume":"11","author":"Shen","year":"2021","journal-title":"Theranostics"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"e13855","DOI":"10.1111\/aji.13855","article-title":"Heme Metabolism and HO-1 in the Pathogenesis and Potential Intervention of Endometriosis","volume":"91","author":"Hou","year":"2024","journal-title":"Am. J. Reprod. Immunol."},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Powell, S.G., Sharma, P., Masterson, S., Wyatt, J., Arshad, I., Ahmed, S., Lash, G., Cross, M., and Hapangama, D.K. (2023). Vascularisation in Deep Endometriosis: A Systematic Review with Narrative Outcomes. Cells, 12.","DOI":"10.3390\/cells12091318"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1111\/jog.14710","article-title":"The Role of Mitogen-Activated Protein Kinase Signaling Pathway in Endometriosis","volume":"47","author":"Bora","year":"2021","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.fertnstert.2012.06.029","article-title":"Pathogenesis and Pathophysiology of Endometriosis","volume":"98","author":"Burney","year":"2012","journal-title":"Fertil. Steril."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"111942","DOI":"10.1016\/j.intimp.2024.111942","article-title":"Stress, Pain, Anxiety, and Depression in Endometriosis\u2013Targeting Glial Activation and Inflammation","volume":"132","author":"Mokhtari","year":"2024","journal-title":"Int. Immunopharmacol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/S0140-6736(21)00389-5","article-title":"Endometriosis Is a Chronic Systemic Disease: Clinical Challenges and Novel Innovations","volume":"397","author":"Taylor","year":"2021","journal-title":"Lancet"}],"container-title":["Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2079-9721\/13\/8\/248\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:24:06Z","timestamp":1760034246000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2079-9721\/13\/8\/248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,6]]},"references-count":82,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["diseases13080248"],"URL":"https:\/\/doi.org\/10.3390\/diseases13080248","relation":{},"ISSN":["2079-9721"],"issn-type":[{"value":"2079-9721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,6]]}}}