Identification of Key Differentially Methylated/Expressed Genes and Pathways for Ovarian Endometriosis by Bioinformatics Analysis

Haibo Zhang, Jianlei Wu, Yan Li, Ge Jin, Yunjie Tian, Shan Kang
Reproductive sciences (Thousand Oaks, Calif.) · 2021 · vol. 29(5) , pp. 1630–1643 · doi:10.1007/s43032-021-00751-8 · PMID:34671938 · W3205339045
article OA: closed CC0 ⤵ 7 in-corpus citations
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-07 ⓘ

This study identified 37 hypermethylated low-expression and 66 hypomethylated high-expression genes in ovarian endometriosis, with selected genes showing diagnostic value and enrichment in pathways like JAK-STAT and prolactin signaling.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This bioinformatics study investigated ovarian endometriosis by integrating DNA methylation and gene expression profiles from endometrial tissue, using Illumina 450K methylation microarrays and the GSE141549 gene expression dataset, followed by identification of differentially methylated/expressed genes and pathway enrichment. The authors reported 37 hypermethylated low-expression genes and 66 hypomethylated high-expression genes, highlighting 8 hypermethylated low-expression genes (including ESR1, PRL, IL20RA, IL2RB) and 4 hypomethylated high-expression genes (including CYP11A1 and GSTM1), and found that both gene sets had diagnostic value; enriched pathways included JAK-STAT and prolactin signaling, among others. A subset of differentially methylated/expressed genes was validated in patient samples via qPCR and immunohistochemistry, and additional expression profiling confirmation was done using GSE7305, with the caveat that the integrated analyses depend on cross-dataset comparability and the confirmation appears limited to a subset of genes. This paper is centrally about endometriosis—identifying differentially methylated/expressed genes and enriched signaling pathways for ovarian endometriosis and evaluating their diagnostic value.

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Condition tags

endometriosis

MeSH descriptors

Computational Biology Endometriosis Endometriosis Cytokines Cytokines DNA Methylation Female Gene Expression Regulation, Neoplastic Humans Receptors, Cytokine Receptors, Cytokine

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