Results
| PMID | 27167072 |
| Gene Name | CYP19A1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 24 |
| Population details | 24 infertile patients with and without endometriosis |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Endometriosis, Female infertility |
|
J Assist Reprod Genet. 2016 Aug;33(8):1105-13. doi: 10.1007/s10815-016-0727-z. Hosseini, Elham| Mehraein, Fereshteh| Shahhoseini, Maryam| Karimian, Leili| Nikmard, Fatemeh| Ashrafi, Mahnaz| Afsharian, Parvaneh| Aflatoonian, Reza Department of Anatomy, School of Medicine, Iran University of Medical Sciences, Hemmat highway, Tehran, 1449614525, Iran.| Department of Anatomy, School of Medicine, Iran University of Medical Sciences, Hemmat highway, Tehran, 1449614525, Iran. femehra PURPOSE: The purpose of the present study was to investigate the epigenetic mechanisms responsible for the aberrant aromatase expression (CYP19A1) in Cumulus Cells (CCs) of infertile endometriosis patients. METHOD: Cumulus cells were obtained from 24 infertile patients with and without endometriosis who underwent ovarian stimulation for intracytoplasmic sperm injection. Expression of CYP19A1 gene was quantified using Reverse Transcription Q-PCR. DNA methylation, histone modifications, and binding of Estrogen Receptor, ERbeta to regulatory DNA sequences of CYP19A1 gene were evaluated by Chromatin ImmunoPrecipitation (ChIP) assay. RESULTS: CYP19A1 gene expression in CCs of endometriosis patients was significantly lower than the control group (P = 0.04). Higher incorporation of MeCP2 (as a marker of DNA methylation) on PII and PI.4 promoters, and hypoacetylation at H3K9 in PII and hypermethylation at H3K9 in PI.4 were observed in CYP19A1 gene in endometriosis patients (P < 0.05). Moreover, a decreased level of ERbeta binding to PII and an increased level of its binding to PI.3 and PI.4 promoters of CYP19A1 were observed in endometriosis patients when compared to control. CONCLUSION: Significant reduction of CYP19A1 gene expression in CCs of endometriosis patients may be the result of epigenetic alterations in its regulatory regions, either by DNA methylation or histone modifications. These epigenetic changes along with differential binding of ERbeta (as a transcription factor) in CYP19A1 promoters may impair follicular steroidogenesis, leading to poor Oocyte and embryo condition in endometriosis patients. Mesh Terms: Aromatase/biosynthesis/*genetics| Cross-Sectional Studies| Cumulus Cells/*cytology| DNA Methylation/genetics| Endometriosis/*genetics/pathology| Epigenesis, Genetic/*genetics| Estrogen Receptor beta/metabolism| Female| Genetic Association Studies| |
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