Endometriose und Genetik

Marie Vogel, Ludwig Kiesel
In: Gynäkologische Endokrinologie · 2021 · vol. 20(1) , pp. 61–63 · doi:10.1007/s10304-021-00420-8 · W3216270302
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This review and associated cited studies investigate the genetic underpinnings of endometriosis, exploring heritability and identifying novel loci associated with the condition and pain comorbidities.

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This paper is a narrative literature overview focused on the genetics of endometriosis, summarizing evidence from classic family and twin studies, human leukocyte antigen (HLA) studies, and large-scale genome-wide association study (GWAS) and meta-analysis findings, along with broader synthesis reviews. It reports that endometriosis shows heritable components and that GWAS approaches have identified multiple susceptibility loci, while also describing genetically associated comorbidity with other pain conditions as reported in the cited literature. A key caveat is that, because the article is based on literature rather than new patient or animal experiments, it does not provide original experimental results and relies on the scope and limitations of the included studies. This paper is centrally about endometriosis — it specifically discusses the genetic evidence base and findings across multiple study designs.

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Literatur Deiana D, Gessa S, Anardu M, Daniilidis A, Nappi L, D’Alterio MN, Pontis A, Angioni S (2019) Genetics of endometriosis: a comprehensive review. Gynecol Endocrinol 35(7):553–558. https://doi.org/10.1080/09513590.2019.1588244 Simpson JL, Elias S, Malinak LR, Buttram VC Jr (1980) Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 137(3):327–331. https://doi.org/10.1016/0002-9378(80)90917-5 Treloar SA, O’Connor DT, O’Connor VM, Martin NG (1999) Genetic influences on endometriosis in an Australian twin sample. [email protected]. Fertil Steril 71(4):701–710. https://doi.org/10.1016/s0015-0282(98)00540-8 Saha R, Pettersson HJ, Svedberg P, Olovsson M, Bergqvist A, Marions L, Tornvall P, Kuja-Halkola R (2015) Heritability of endometriosis. Fertil Steril 104(4):947–952. https://doi.org/10.1016/j.fertnstert.2015.06.035 Rahmioglu N, Banasik K, Christofidou P (2018) Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions. https://doi.org/10.1101/406967 Ishii K, Takakuwa K, Mitsui T, Tanaka K (2002) Studies on the human leukocyte antigen-DR in patients with endometriosis: genotyping of HLA-DRB1 alleles. Hum Reprod 17(3):560–563. https://doi.org/10.1093/humrep/17.3.560 Cardoso JV, Perini JA, Machado DE, Pinto R, Medeiros R (2020) Systematic review of genome-wide association studies on susceptibility to endometriosis. Eur J Obstet Gynecol Reprod Biol 255:74–82. https://doi.org/10.1016/j.ejogrb.2020.10.017 Montgomery GW (2020) The genetics of endometriosis. Twin Res Hum Genet 23(2):103–104. https://doi.org/10.1017/thg.2020.36 Zondervan KT, Becker CM, Missmer SA (2020) Endometriosis. N Engl J Med 382(13):1244–1256. https://doi.org/10.1056/NEJMra1810764 Author information Authors and Affiliations Corresponding author Ethics declarations Interessenkonflikt M. Vogel und L. Kiesel geben an, dass kein Interessenkonflikt besteht. Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien. Additional information Redaktion Annette Bachmann, Frankfurt Ludwig Kiesel, Münster Petra Stute, Bern QR-Code scannen & Beitrag online lesen Rights and permissions About this article Cite this article Vogel, M., Kiesel, L. Endometriose und Genetik. Gynäkologische Endokrinologie 20, 61–63 (2022). https://doi.org/10.1007/s10304-021-00420-8 Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s10304-021-00420-8

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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