Results
| PMID | 21397694 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 20 |
| Population details | 20 (11 ovarian endometriosis samples, 9 control endometrium samples) |
| Sex | Female |
| Associated genes | ESR1 |
| Other associated phenotypes |
Endometriosis |
|
J Steroid Biochem Mol Biol. 2011 Jul;125(3-5):231-42. doi: Vouk, Katja| Smuc, Tina| Guggenberger, Christina| Ribic-Pucelj, Martina| Sinkovec, Jasna| Husen, Bettina| Thole, Hubert| Houba, Pieter| Thaete, Claudia| Adamski, Jerzy| Rizner, Tea Lanisnik Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Vrazov trg, 2, 1000 Ljubljana, Slovenia. In the search for novel biomarkers of endometriosis, we selected 152 genes from the GeneLogic database based on results of genome-wide expression analysis of ovarian endometriosis, plus 20 genes related to estrogen metabolism and action. We then performed low-density array analysis of these 172 genes on 11 ovarian endometriosis samples and 9 control endometrium samples. Principal component analysis of the gene expression levels showed clear separation between the endometriosis and control groups. We identified 78 genes as differentially expressed. Based on Ingenuity pathway analysis, these differentially expressed genes were arranged into groups according to biological function. These analyses revealed that 32 differentially expressed genes are estrogen related, 23 of which have not been reported previously in connection with endometriosis. Functional annotation showed that 25 and 22 genes are associated with the biological terms "secreted" and "extracellular region", respectively. Differential expression of 4 out of 5 genes related to estrogen metabolism and action (ESR1, ESR2, PGR and BGN) was also confirmed by immunohistochemistry. Our study thus reveals differential expression of several genes that have not previously been associated with endometriosis and that encode potential novel biomarkers and drug targets. Mesh Terms: Adult| Aromatase/genetics/metabolism| Biglycan/genetics/metabolism| Biomarkers/*analysis| Endometriosis/*genetics/*metabolism| Estrogen Receptor alpha/genetics/metabolism| Female| Humans| Immunohistochemistry| In Vitro Techniques| Middle Aged| |
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