{"paper_id":"1d5a15fd-06d8-4632-a34a-df059924fe06","body_text":"Abstract\nEndometriosis is a complex condition that is caused by both multiple genetic and environmental factors. The heritable component for endometriosis is estimated at ~50%. Here we provide a summary of genome-wide associations studies (GWAS) performed to date to identify common genetic variants for endometriosis. Largest GWAS meta-analysis conducted by the International Endogene Genomics Consortium (IEGC) included a total of 58,115 endometriosis cases and 733,480 controls and has identified 27 loci genome-wide significantly associated with endometriosis. Positionally, the lead SNPs for the identified genetic loci reside near genes that are involved in sex-steroid hormone, WNT signaling, cell adhesion/migration, cell growth/carcinogenesis, and inflammation-related pathways. Furthermore, genetic variants associated with subtypes of endometriosis are described. In particular, eight genome-wide significant signals were associated with stage III/IV disease and 21 of 27 loci had larger effect sizes in stage III/IV disease compared to stage I/II disease suggesting that particular variants may confer risk for different subtypes of endometriosis through different pathways. Together, the 27 loci explained 2.15% of variance for overall endometriosis and 3.83% for stage III/IV disease which highlight that there remain many more genetic loci to be revealed for endometriosis in larger, deeply phenotyped datasets.\nFurthermore, future research needs to focus on fine-mapping of the identified loci to reveal the causal variants for each of the 27 loci and functional follow-up examining their effects on multiomics data in tissues and cells relevant to endometriosis, i.e., endometrium and its cellular components.\nAccess this chapter\nTax calculation will be finalised at checkout\nPurchases are for personal use only\nSimilar content being viewed by others\nReferences\nCraig J. Complex diseases: research and applications. Nat Educ. 2008;1(1):184.\nSaha R, Pettersson HJ, Svedberg P, Olovsson M, Bergqvist A, Marions L, Tornvall P, Kuja-Halkola R. Heritability of endometriosis. Fertil Steril. 2015;104:947–52.\nTreloar SA, O’Connor DT, O’Connor VM, Martin NG. 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Springer, Cham. https://doi.org/10.1007/978-3-030-97236-3_6\nDownload citation\nDOI: https://doi.org/10.1007/978-3-030-97236-3_6\nPublished:\nPublisher Name: Springer, Cham\nPrint ISBN: 978-3-030-97235-6\nOnline ISBN: 978-3-030-97236-3\neBook Packages: MedicineMedicine (R0)","source_license":"CC0","license_restricted":false}