Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 22065163
Gene Name MUC16
Condition Endometriosis
Association Associated
Population size 60
Population details 60 (20 cases of ovarian, 20 cases of deep endometriosis)
Sex Female
Associated genes CA125, Survivin, CA19
Other associated phenotypes Endometriosis
Performance of peripheral (serum and molecular) blood markers for diagnosis of endometriosis.

Arch Gynecol Obstet. 2012 May;285(5):1307-12. doi: 10.1007/s00404-011-2122-4.

Mabrouk, Mohamed| Elmakky, Amira| Caramelli, Elisabetta| Farina, Antonio| Mignemi, Giuseppe| Venturoli, Stefano| Villa, Gioia| Guerrini, Manuela| Manuzzi, Linda| Montanari, Giulia| De Sanctis, Paola| Valvassori, Luisa| Zucchini, Cinzia| Serac

Reproductive Medicine Unit, S. Orsola-Malpighi Hospital, via Massarenti 9, 40138 Bologna, Italy.

PURPOSE: To quantify the mRNA levels of MMP-3, MMP-9, VEGF and Survivin in peripheral blood and the serum levels of CA-125 and Ca19-9 in women with and without endometriosis and to investigate the performance of these markers to differentiate between deep and ovarian endometriosis. METHODS: A case control study enrolled a series of 60 patients. Twenty controls have been matched with 20 cases of ovarian and 20 cases of deep endometriosis. Univariable and multivariable performance of serum CA125 and CA19-9, mRNA for Survivin, MMP9, MMP3 and VEGF genes have been evaluated by means of ROC curves and logistic regression, respectively. RESULTS: No difference in markers' concentration was detected between ovarian and deep endometriosis. In comparison with controls, serum CA125 and CA19 yielded the better sensitivity followed by mRNA for Survivin gene (81.5, 51.9 and 7.5% at 10% false positive rate, respectively). Multivariable estimated odds of endometriosis yielded a sensitivity of 87% at the same false positive rate. CONCLUSIONS: A combination of serum and molecular markers could allow a better diagnosis of endometriosis.

Mesh Terms: Adult| Biomarkers/*blood| CA-125 Antigen/blood| CA-19-9 Antigen/blood| Case-Control Studies| Endometriosis/*blood/diagnosis| Female| Humans| Inhibitor of Apoptosis Proteins/blood| Matrix Metalloproteinase 3/blood| Matrix Metalloproteinase 9/bloo