TY - JOUR AB - Endometriosis is a complex disease influenced by genetic, epigenetic and environmental factors. The aim of the present study was to describe genomic instability, genetic polymorphisms and their haplotype, epigenetic alterations associated with predisposition to endometriosis, and the key factors associated with endometriosis-related ovarian neoplasms. Focus has been given on the developing paradigm that epigenetic alterations or genetic mutations in endometriosis may start in utero or in adolescent and young adults. A search was conducted between 1966 and 2010 through the English language literature (online Medline PubMed database) using the keywords endometriosis combined with epigenetic, genetic and environment. Genetic/epigenetic alterations include single‑nucleotide polymorphisms (SNPs), copy number variation, loss of heterozygosity (LOH), and promoter methylation. Several genes with genetic polymorphisms analyzed in the present study tended to overlap previously reported endometriosis susceptibility genes. Retrograde menstruation leads to iron overload, which facilitates the accumulation of somatic mutations through Fenton reaction-mediated oxidative stress. The epigenetic disruption of gene expression plays an important role in the development of endometriosis through interaction with environmental changes. There seems to be at least three spatiotemporally distinct phases of the development of endometriosis: the initial phase of genetic background inherited from parents; followed by epigenetic modifications in the female offspring; and iron overload, which is subject to dynamic modulation later in life. In conclusion, the marked regulation of endometriosis susceptibility genes may stem from a mechanism responsible for epigenetic and genetic mutations based on the microenvironmental changes. AD - Department of Obstetrics and Gynecology, Nara Medical University, Kashihara, Nara 634-8522, Japan AU - Kobayashi,Hiroshi AU - Imanaka,Shogo AU - Nakamura,Haruki AU - Tsuji,Ayumi DA - 2014/05/01 DO - 10.3892/mmr.2014.2057 EP - 1505 IS - 5 JO - Mol Med Rep KW - endometriosis epigenetic genetic environment PY - 2014 SN - 1791-2997 1791-3004 SP - 1483 ST - Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (Review) T2 - Molecular Medicine Reports TI - Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (Review) UR - https://doi.org/10.3892/mmr.2014.2057 VL - 9 ER -