Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 24884521
Gene Name SOX2
Condition Endometriosis (ovarian)
Association Associated
Population size 42
Population details 42 (26 women with laparoscopy-diagnosed ovarian endometriosis (endometriosis group), 16 disease-free women (control group))
Sex Female
Infertility type Female infertility
Associated genes SOX2, NANOG, OCT4
Other associated phenotypes Ovarian endometriosis
Increased expression of the pluripotency markers sex-determining region Y-box 2 and Nanog homeobox in ovarian endometriosis.

Reprod Biol Endocrinol. 2014 May 18;12:42. doi: 10.1186/1477-7827-12-42.

Song, Yong| Xiao, Li| Fu, Jing| Huang, Wei| Wang, Qiushi| Zhang, Xianghui| Yang, Shiyuan

Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu 610041, Sichuan, P, R, China. weihuang64@163.com.

BACKGROUND: The precise etiology of endometriosis is not fully understood; the involvement of stem cells theory is a new hypothesis. Related studies mainly focus on stemness-related genes, and pluripotency markers may play a role in the etiology of endometriosis. We aimed to analyze the transcription pluripotency factors sex-determining region Y-box 2 (SOX2), Nanog homeobox (NANOG), and octamer-binding protein 4 (OCT4) in the endometrium of reproductive-age women with and without ovarian endometriosis. METHODS: We recruited 26 women with laparoscopy-diagnosed ovarian endometriosis (endometriosis group) and 16 disease-free women (control group) to the study. Endometrial and endometriotic samples were collected. SOX2, NANOG, and OCT4 expression were analyzed with quantitative real-time polymerase chain reaction, western blotting, and immunohistochemistry. RESULTS: Compared to the control group, SOX2 mRNA and protein expression was significantly higher in the eutopic endometrium of participants in the endometriosis group. In the endometriosis group, SOX2 and NANOG mRNA and protein expression were significantly increased in ectopic endometrium compared with eutopic endometrium; there was a trend towards lower OCT4 mRNA expression and higher OCT4 protein expression in ectopic endometrium. CONCLUSIONS: The transcription pluripotency factors SOX2 and NANOG were overexpression in ovarian endometriosis, their role in pathogenesis of endometriosis should be further studied.

Mesh Terms: Adult| Biomarkers/metabolism| China| Endometriosis/*metabolism/pathology/physiopathology| Endometrium/metabolism/pathology| Female| Homeodomain Proteins/genetics/*metabolism| Humans| Hysteroscopy| Immunohistochemistry| Infertility, Female/etiolo