Transcriptome sequencing of adenomyosis eutopic endometrium: A new insight into its pathophysiology

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AI-generated summary by claude@2026-06, 2026-06-08

This study identified 373 differentially expressed genes and activated IL-6 and ERK/MAPK signaling pathways in adenomyosis eutopic endometrium, associating CEBPB hypomethylation and increased expression with the disease.

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Abstract

The eutopic endometrium has been suggested to play a crucial role in the pathogenesis of adenomyosis. However, the specific genes in eutopic endometrium responsible for the pathogenesis of adenomyosis still remain to be elucidated. We aim to identify differentially expressed genes (DEGs) and molecular pathways/networks in eutopic endometrium from adenomyosis patients and provide a new insight into disease mechanisms at transcriptome level. RNA sequencing (RNA-Seq) was performed with 12 eutopic endometrium from adenomyosis and control groups. Differentially expressed genes in adenomyosis were validated by quantitative real-time PCR (qPCR) and immunochemistry. Functional annotations of the DEGs were analysed with Ingenuity Pathway Analysis (IPA). Quantitative DNA methylation analysis of CEBPB was performed with MassArray system. A total of 373 differentially expressed genes were identified in the adenomyosis eutopic endometrium compared to matched controls. Bioinformatic analysis predicted that IL-6 signalling and ERK/MAPK signalling were activated in adenomyosis endometrium. We also found that the increased expression and DNA hypomethylation of CEBPB were associated with adenomyosis. Our results revealed key pathways and networks in eutopic endometrium of adenomyosis. The study is the first to propose the association between C/EBPβ and adenomyosis and can improve the understanding of the pathogenesis of adenomyosis.

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Condition tags

adenomyosis

MeSH descriptors

Adenomyosis Endometrium Exome Sequencing Gene Expression Profiling Sequence Analysis, RNA Transcriptome Adenomyosis Adenomyosis Adenomyosis Adult Computational Biology Computational Biology Computational Biology Endometrium Endometrium Exome Sequencing Female Gene Expression Profiling Gene Regulatory Networks Humans

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europepmc
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