Imprinting genes associated with endometriosis


  • Hiroshi Kobayashi Department of Obstetrics and Gynecology, Nara Medical University, Nara, Japan


endometriosis, imprinting gene, pathogenesis


Purpose: Much work has been carried out to investigate the genetic and epigenetic basis of endometriosis and proposed that endometriosis has been described as an epigenetic disease. The purpose of this study was to extract the imprinting genes that are associated with endometriosis development.

Methods: The information on the imprinting genes can be accessed publicly from a web-based interface at

Results: In the current version, the database contains 150 human imprinted genes derived from the literature. We searched gene functions and their roles in particular biological processes or events, such as development and pathogenesis of endometriosis. From the genomic imprinting database, we picked 10 genes that were highly associated with female reproduction; prominent among them were paternally expressed genes (DIRAS3, BMP8B, CYP1B1, ZFAT, IGF2, MIMT1, or MIR296) and maternally expressed genes (DVL1, FGFRL1, or CDKN1C). These imprinted genes may be associated with reproductive biology such as endometriosis, pregnancy loss, decidualization process and preeclampsia.

Discussion: This study supports the possibility that aberrant epigenetic dysregulation of specific imprinting genes may contribute to endometriosis predisposition.



How to Cite

Kobayashi, H. (2014). Imprinting genes associated with endometriosis. EXCLI Journal, 13, 252–264. Retrieved from



Review articles