Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 24188612
Gene Name JAG1
Condition Endometriosis
Association Associated
Population size 32
Population details 32 (18 with endometriosis, 14 controls)
Sex Female
Associated genes AKT1, TYMP, JAG1, LAMA5, TIMP-1
Other associated phenotypes Endometriosis
Profiling of selected angiogenesis-related genes in proliferative eutopic endometrium of women with endometriosis.

Eur J Obstet Gynecol Reprod Biol. 2014 Jan;172:85-92. doi:

Laudanski, P| Charkiewicz, R| Kuzmicki, M| Szamatowicz, J| Swiatecka, J| Mroczko, B| Niklinski, J

Department of Perinatology, Medical University of Bialystok, ul. Marii Sklodowskiej-Curie 24a, 15-276 Bialystok, Poland. Electronic address: plauda@umb.edu.pl.| Department of Clinical Molecular Biology, Medical University of Bialystok, ul. Waszyngtona

OBJECTIVE: To compare the expression level of the most relevant angiogenesis-related genes in the eutopic endometrium of women with and without endometriosis. STUDY DESIGN: 32 regularly menstruating patients (18 with endometriosis and 14 controls) underwent surgery in the proliferative phase of the cycle. Eutopic endometrium was collected by the use of aspirating biopsy prior to laparoscopy. Only patients with advanced (stage III and IV) histopathologically confirmed ovarian endometriosis were studied. Real-time PCR gene arrays were applied to examine the expression of 84 human angiogenesis-connected genes. Western-blot and enzyme-linked immunosorbent assays (ELISA) were used to confirm the expression of selected proteins. RESULTS: We found significantly higher levels of AKT1 (p=0.003), TYMP (p=0.02), JAG1 (p=0.007), LAMA5 (p=0.005) and TIMP-1 (p=0.03) in eutopic endometrium of patients with endometriosis as compared with controls. By the use of Western blot we found clearly positive expression of AKT1 whereas ELISA assays confirmed expression of AKT1, TYMP, JAG1, LAMA5 and TIMP1. CONCLUSION: Changes in the expression of selected genes might lead to or be a consequence of an early defect in the physiological activity of proliferative endometrium ultimately resulting in its overgrowth outside the uterine cavity.

Mesh Terms: Adult| Calcium-Binding Proteins/genetics/metabolism| Case-Control Studies| Endometriosis/*genetics/metabolism| Endometrium/blood supply/*metabolism| Enzyme-Linked Immunosorbent Assay| Female| Follicular Phase/*genetics/metabolism| Gene Expression