Abstract
Endometriosis is a gynecological disease characterized by implantation of endometrial tissue outside of the uterus. Early familial aggregation and twin studies noted a higher risk of endometriosis among relatives. Studies on the roles of the environment, genetics and aberrant regulation in the endometrium and endometriotic lesions of women with endometriosis suggest that endometriosis arises from the interplay between genetic variants and environmental factors. Elucidating the hereditary component has proven difficult because multiple genes seem to produce a susceptibility to developing endometriosis. Molecular techniques, including linkage and genome-wide analysis, have identified candidate genes located near known loci related to development and regulation of the female reproductive tract. As new candidate genes are discovered and hereditary pathways identified using technologies such as genome-wide analysis, the possibility of prevention and treatment becomes more tangible for millions of women affected by endometriosis. Here, we discuss the advances of genetic research in endometriosis and describe technologies that have contributed to the current understanding of the genetic variability in endometriosis, variability that includes regulatory polymorphisms in key genes.
Highlights
Endometriosis is a gynecological disease characterized by implantation of endometrial tissue outside of the uterus
genome-wide association study (GWAS) may bring insight into geneenvironment interaction and identify candidate genes that are associated with endometriosis
This promising new technology has the potential for finding modest associations for polygenic diseases such as endometriosis
Summary
We have seen progress in the understanding of endometriosis in the past decade through linkage analysis and association studies. GWASs may bring insight into geneenvironment interaction and identify candidate genes that are associated with endometriosis. GWASs are prone to error and bias arising from the predominantly case-control study design and the difficulty of interpreting statistics that result from multiple hypothesis testing. They need to be further validated through replication studies that find similar associations among independent samples with large, appropriately powered populations. Authors’ information ED is Associate, Department of Gynecology and Obstetrics, Emory University. FW is Assistant Professor, Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University. RNT is Leach-Hendee Professor, Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University. His research interests are the cellular and molecular biology of endometriosis, novel therapeutic targets and potential medications for the treatment of endometriosis
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