Determining the Molecular Background of Endometrial Receptivity in Adenomyosis

• Main Authors: Erika Prašnikar, Tanja Kunej, Jure Knez, Katja Repnik, Uroš Potočnik, Borut Kovačič
• Format: Article
• Language: English
• Published: MDPI AG 2020-09-01
• Series: Biomolecules
• Subjects: adenomyosis; candidate genes; endometrial receptivity; endometriosis; gene expression; gene set enrichment analysis (GSEA)
• Online Access: https://www.mdpi.com/2218-273X/10/9/1311

Background: Adenomyosis is a gynaecological condition with limited evidence of negative impact to endometrial receptivity. It is commonly associated with endometriosis, which has been shown to alter endometrial expression patterns. Therefore, the candidate genes identified in endometriosis could serve as a source to study endometrial function in adenomyosis. Methods: Transcripts/proteins associated with endometrial receptivity in women with adenomyosis or endometriosis and healthy women were obtained from publications and their nomenclature was adopted according to the HUGO Gene Nomenclature Committee (HGNC). Retrieved genes were analysed for enriched pathways using Cytoscape/Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) and Reactome tools to prioritise candidates for endometrial receptivity. These were used for validation on women with (<i>n</i> = 9) and without (<i>n</i> = 13) adenomyosis. Results: Functional enrichment analysis of 173, 42 and 151 genes associated with endometriosis, adenomyosis and healthy women, respectively, revealed signalling by interleukins and interleukin-4 and interleukin-13 signalling pathways, from which annotated <i>LIF</i>, <i>JUNB</i>, <i>IL6</i>, <i>FOS</i>, <i>IL10</i> and <i>SOCS3</i> were prioritised. Selected genes showed downregulated expression levels in adenomyosis compared to the control group, but without statistical significance. Conclusion: This is the first integrative study providing putative candidate genes and pathways characterising endometrial receptivity in women with adenomyosis in comparison to healthy women and women with endometriosis.