Results
| PMID | 20826587 |
| Gene Name | MUC1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 99 |
| Population details | 99 (33 fertile patients, 26 ovulatory PCOS patients, 15 anovulatory PCOS patients, and 25 endometriosis patients) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | ER, PR, HSD1, and HSD2 |
| Other associated phenotypes |
Female infertility, PCOS, Endometriosis |
|
J Clin Endocrinol Metab. 2010 Dec;95(12):5320-9. doi: 10.1210/jc.2010-0603. Epub Margarit, L| Taylor, A| Roberts, M H| Hopkins, L| Davies, C| Brenton, A G| Conlan, R S| Bunkheila, A| Joels, L| White, J O| Gonzalez, D Institute of Life Science, School of Medicine, Swansea University, and Abertawe Bro Morgannwg University Trust, Singleton Hospital, Swansea SA2 8PP, Wales, United Kingdom. CONTEXT: Endometrium of fertile women expresses progesterone-regulated Mucin 1 (MUC1) that carries selectin ligands recognized by the human blastocyst. Altered MUC1 expression at the time of implantation may contribute to endometrial infertility. OBJECTIVE: The aim was to assess the expression of MUC1 in the endometrium from polycystic ovary syndrome (PCOS), endometriosis, and fertile women in comparison with other hormone-regulated proteins [hydroxysteroid dehydrogenase (HSD) 1, HSD2, estrogen receptor (ER) and progesterone receptor (PR)]. DESIGN AND PATIENTS: Endometrial samples were obtained from 33 fertile patients, 26 ovulatory PCOS patients, 15 anovulatory PCOS patients, and 25 endometriosis patients. MAIN OUTCOME MEASURE: Immunohistochemistry assessed the expression of MUC1 subunits ER, PR, HSD1, and HSD2 in endometrial epithelium. Endometrial MUC1 expression was quantified by immunoblots and RT-PCR. HSD1 and HSD2 expression was assayed by RT-PCR. RESULTS: MUC1ND expression was significantly higher in ovulatory PCOS than in fertile and anovulatory PCOS patients, even after progesterone stimulation. MUC1ND and -CD expression was lower in anovulatory PCOS than in fertile patients. Only MUC1CD expression was lower in endometriosis patients. Endometrial ER expression was significantly higher in PCOS and endometriosis patients, whereas PR expression was significantly higher in PCOS than in fertile patients. The expression of HSD1 was significantly higher in anovulatory PCOS than in fertile patients. Expression of HSD2 was significantly higher in PCOS patients and lower in endometriosis patients. CONCLUSION: Expression of MUC1 subunits in the infertile endometrium is significantly different from fertile and appears to be a component of altered gene expression that potentially contributes to endometrial insufficiency. Mesh Terms: Anovulation/genetics/*metabolism| Antigens, Surface/genetics| Diagnosis, Differential| Endometriosis/diagnosis/genetics/*metabolism| Endometrium/metabolism| Female| Humans| Membrane Proteins/genetics| Mucin-1/*genetics/metabolism| Ovulation/physi |
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