Kobayashi Hiroshi
Department of Obstetrics and Gynecology, Nara Medical University, Nara, Japan.
EXCLI J. 2014 Mar 13;13:252-64. eCollection 2014.
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.
The information on the imprinting genes can be accessed publicly from a web-based interface at http://www.geneimprint.com/site/genes-by-species.
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.
This study supports the possibility that aberrant epigenetic dysregulation of specific imprinting genes may contribute to endometriosis predisposition.
已开展大量工作来研究子宫内膜异位症的遗传和表观遗传基础，并提出子宫内膜异位症可被描述为一种表观遗传疾病。本研究的目的是提取与子宫内膜异位症发生相关的印记基因。
印记基因的信息可从基于网络的界面http://www.geneimprint.com/site/genes-by-species公开获取。
在当前版本中，该数据库包含来自文献的150个人类印记基因。我们搜索了基因功能及其在特定生物学过程或事件中的作用，例如子宫内膜异位症的发生和发病机制。从基因组印记数据库中，我们挑选出10个与女性生殖高度相关的基因；其中突出的是父源表达基因（DIRAS3、BMP8B、CYP1B1、ZFAT、IGF2、MIMT1或MIR296）和母源表达基因（DVL1、FGFRL1或CDKN1C）。这些印记基因可能与生殖生物学相关，如子宫内膜异位症、流产、蜕膜化过程和子痫前期。
本研究支持特定印记基因的异常表观遗传失调可能导致子宫内膜异位症易感性的可能性。
