Results
| PMID | 18849443 |
| Gene Name | ESR1 |
| Condition | Endometriosis (ovarian) |
| Association |
Associated |
| Sex | Female |
| Associated genes | CYP1A1, CYP1B1, gamma-syn, ER alpha, ER beta, BCL-2 |
| Other associated phenotypes |
Ovarian endometriosis |
|
Mol Hum Reprod. 2008 Nov;14(11):655-63. doi: 10.1093/molehr/gan056. Epub 2008 Oct Singh, Maneesh N| Stringfellow, Helen F| Taylor, Sian E| Ashton, Kate M| Ahmad, Mushfika| Abdo, Khalil R| El-Agnaf, Omar M A| Martin-Hirsch, Pierre L| Martin, Francis L Lancashire Teaching Hospitals NHS Trust, Fulwood, Preston, UK. Endometriosis is a debilitating disease in which apoptotic, genetic, immunological, angiogenic and environmental factors have been implicated. Endocrine-disrupting agents (e.g. dioxins) might be involved. Dioxins, via the arylhydrocarbon receptor (AhR), induce estrogen-metabolizing enzymes CYP1A1 and CYP1B1. Elevated expression of gamma-SYNUCLEIN (gamma-SYN) has been associated with hormone-related conditions. Tissue sets consisting of eutopic and ectopic (ovarian) endometrium from patients with stage 3 or 4 endometriosis were obtained. Following RNA extraction and reverse transcription, quantitative real-time reverse transcriptase-polymerase chain reaction was performed for anti-apoptotic B-cell leukaemia/lymphoma 2 (BCL-2), CYP1A1, CYP1B1, estrogen receptor (ER)alpha, ER beta and gamma-SYN. Immunohistochemical analyses for gamma-syn, ER alpha, ER beta and CYP1A1 were also conducted. A 3-9-fold increase in intra-individual expression of CYP1A1 in ectopic (ovarian) endometrium compared with eutopic tissue was observed; immunohistochemical analyses pointed to CYP1A1 being localized to the glandular epithelium. This intra-individual expression profile was not observed for CYP1B1 or BCL-2. However, a 5-53-fold intra-individual increase in gamma-SYN expression was also demonstrated in six of nine tissue sets (a further two showed an increase that was not considered significant) when comparing ectopic to eutopic endometrium; gamma-syn positivity was associated with endothelial cells. An elevation in ER beta was also noted when comparing ectopic to eutopic endometrium; with regard to ER alpha, this was inconsistent. These results suggest an up-regulation of dioxin-inducible CYP1A1 and gamma-SYN occurs in endometriosis. Whether gamma-syn may be a novel diagnostic marker for endometriosis remains to be ascertained. Mesh Terms: Adult| Aryl Hydrocarbon Hydroxylases| Cytochrome P-450 CYP1A1/genetics/*metabolism| Cytochrome P-450 CYP1B1| Cytochrome P-450 Enzyme System/genetics/metabolism| Endometriosis/genetics/*metabolism/pathology| Endometrium/*metabolism| Female| Gene Ex |
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