Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 27023436
Gene Name CDH1
Condition Endometriosis (ovarian)
Association Associated
Population size 100
Population details 100 (50 patients with ovarian endometriosis ( stage III–IV),50 controls (38 controls due to cervical intraepithelial neoplasia III, 12 patients with cervical intraepithelial neoplasia III))
Age Patients: 22–51; Controls: 26-55
Sex Female
Other associated phenotypes Ovarian endometriosis
Aberrant Methylation of the E-Cadherin Gene Promoter Region in Endometrium and Ovarian Endometriotic Cysts of Patients with Ovarian Endometriosis.

Gynecol Obstet Invest. 2017;82(1):78-85. doi: 10.1159/000445293. Epub 2016 Mar

Li, Yan| An, Dong| Guan, Ying-Xia| Kang, Shan

Department of Molecular Biology, Hebei Medical University, Fourth Hospital, Shijiazhuang, China.

The loss of E-cadherin expression plays an important role in the development of endometriosis, but the molecular mechanism is not clear to date. It has been confirmed that the hypermethylation of the CpG island may be an important molecular mechanism in the transcriptional inactivation of E-cadherin gene (CDH1) in many cancers. The present study investigated the methylation status of CDH1 promoter region in ovarian endometriotic cysts and the endometrium of women with ovarian endometriosis. The results showed that the frequency of CDH1 promoter methylation in eutopic (26%), ectopic tissues (32%) of women with ovarian endometriosis was significantly higher than that of endometrium tissue of women without endometriosis (8%). Further, results of the study showed that the expression level of mRNA and protein of E-cadherin in methylation-positive tissues was significantly lower than that in methylation-negative tissues (p = 0.023 and 0.035, respectively). Pearson's correlation coefficients analysis showed the level of CDH1 mRNA expression was closely related to the level of E-cadherin protein expression. The results implied that the aberrant methylation of the CDH1 promoter region in the endometrium of the women may contribute, at least in part, to the development of ovarian endometriosis.

Mesh Terms: Adult| Cadherins/*genetics/metabolism| CpG Islands/genetics| DNA Methylation/*genetics| Endometriosis/*genetics/metabolism| Endometrium/metabolism| Female| Humans| Middle Aged| Ovarian Diseases/*genetics/metabolism| Ovary/metabolism| Promoter R