{"paper_id":"9a50230d-ca83-4755-92a9-b41379312af6","body_text":"Zusammenfassung\nDie Endometriose ist eine benigne, östrogenabhängige, vererbbare Erkrankung, wobei jedoch der genaue Vererbungsmodus unklar ist. Das erhöhte Risiko für Endometriose in der Verwandtschaft (5–8% bei Verwandten 1. Grades) weist auf einen polygenen Mechanismus hin. Das polygene Modell ist dadurch definiert, dass die Entstehung einer Erkrankung durch einen kumulativen Effekt von mehreren Genen beeinflusst wird. Für das polygene Modell sprechen das Vorkommen von schwereren Formen und das Vorkommen in jüngeren Jahren im Rahmen der familiär gehäuft auftretenden Endometriose. Hinzu kommt, dass die Endometriose durch Umweltfaktoren beeinflusst wird. Somit besteht ein polygener und multifaktorieller Entstehungsmechanismus. Die Möglichkeit der Identifizierung von Genen und Genprodukten mittels innovativer genetischer Untersuchungsmethoden erleichtert nicht nur das Verständnis der Pathogenese der Endometriose, sondern könnte eine bessere Diagnose und/oder Therapie der Endometriose und gezielte präventive Maßnahmen ermöglichen.\nAbstract\nEndometriosis is a multifactorial disease affecting up to 2–15% of women of reproductive age. This condition is characterized by the presence and growth of endometrial cells outside the uterus. Susceptibility to endometriosis depends on complex interactions of immunologic, hormonal, environmental, and genetic factors. Endometriosis is a genetic disease, although the mode of inheritance is not exactly clear. It does not appear to be inherited as a Mendelian trait but it does cluster in families. The 5 to 8% risk for first-degree relatives is more reminiscent of polygenic/multifactorial tendencies than of a single mutant gene. The fact that endometriosis is more severe and shows early-onset in familial compared to sporadic cases suggests a polygenic mode of inheritance. Other factors, however can explain familial clustering, such as exposure to environmental or infectious agents. If achievable, the identification of genes involved in the pathophysiology of endometriosis using innovative technologies such as genomics and proteomics could allow individualization of therapies as well as primary and secondary prevention strategies for endometriosis, aimed at high-risk populations.\nSimilar content being viewed by others\nLiteratur\nAttia GR, Zeitoun K, Edwards D, Johns A, Carr BR, Bulun SE (2000) Progesterone receptor isoform A but not B is expressed in endometriosis. J Clin Endocrinol Metab 85: 2897–2902\nBarnhart K, Dunsmoor-Su R, Coutifaris C (2002) Effect of endometriosis on in vitro fertilization. Fertil Steril 77: 1148–1155\nChegini N (2002) Peritoneal microenvironment, adhesion formation and clinical implication. Front Biosci 7: 91–115\nCoxhead D, Thomas EJ (1993) Familial inheritance of endometriosis in a British population. A case control study. J Obstet Gynecol 13: 42–44\nD’Cruz OJ, Wild RA, Haas Jr et al. (1993) Antibodies to carbonic anhydrase in endometriosis: prevalence, specificity, and relationship to clinical and laboratory parameters. Fertil Steril 66: 547–556\nEyster KM, Boles AL, Brannian JD, Hansen KA (2002) DNA microarray analysis of gene expression markers of endometriosis. Fertil Steril 77: 38–42\nKao LC, Germeyer A, Tulac S et al. (2003) Expression profiling of endometrium from women with endometriosis reveals candidate genes for disease-based implantation failure and infertility. Endocrinol 144: 2870–2871\nDogan S, Machicao F, Wallwiener D, Häring HU, Diedrich K, Hornung D (2004) Association of PPAR-gamma2 (peroxisome proliferator activated receptor) Pro12Ala polymorphism with endometriosis. Fertil Steril 81: 1411–1413\nHull DB, Gibson C, Hart A et al. (2002) The heritability of endometriosis in large Utah families. Fertil Steril 77: S21\nKennedy S, Mardon H, Barlow D (1995) Familial endometriosis. J Assist Reprod Genet 12: 32–34\nLamb K, Hoffmann RG, Nichols TR (1986) Family trait analysis: a case-control study of 43 women with endometriosis and their best friends. Am J Obstet Gynecol 154: 596–601\nLander ES, Linton LM, Birren et al. (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921\nLessey BA, Yeh I, Castelbaum AJ et al. (1996) Endometrial progesterone receptors and markers of uterine receptivity in the window of implantation. Fertil Steril 65: 477–483\nLiang P, Pardee AB (1992) Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction. Science 257: 967–971\nMoen MH, Magnus P (1993) The familial risk of endometriosis. Acta Obstet Gynecol Scand 72: 560–564\nMote PA, Balleine RL, Mc Gowan et al. (2000) Heterogeneity of progesterone receptors A and B expression in human endometrial glands and stroma. Hum Reprod 15 (Suppl 3): 48–56\nMote PA, Balleine RL, McGowan EM et al. (1999) Colocalization of progesterone receptors A and B by dual immunofluorescent histochemistry in human endometrium during the menstrual cycle. J Clin Endorinol Metab 84: 2963–2971\nMueller M, Vigne JL, Vaisse C et al. (2000) Glycodelin: A pane in the implantation window. Semin Reprod Med 18: 289–298\nSharpe KL, Zimmer RL, Griffin WT, Penney LL (1993) Polypeptides synthesized and released by human endometriosis differ from those of the uterine endometrium in cell and tissue explant culture. Fertil Steril 60: 839–851\nSimpson JL, Elias S, Malinak LR et al. (1980) Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 137: 327–331\nSimpson JL, Bischoff FZ (2002) Heritability and molecular genetic studies of endometriosis. Ann NY Acad Sci 955: 239–951\nTreloar S, Hadfield R, Montgomery G et al. International Endogene Study Group (2002) The International Endogene Study: a collection of families for genetic research in endometriosis. Fertil Steril 78: 679–685\nWieser F, Schneeberger C, Tong D, Tempfer C, Huber JC, Wenzl R (2002) The PROGINS receptor gene polymorphism is associated with endometriosis. Fertil Steril 77: 309–312\nYeaman GR, Collins JE, Lang GA (2002) Autoantibody responses to carbohydrate epitopes in endometriosis. Ann N Y Acad Sci 955: 174–182\nZondervan K, Cardon L, Kennedy SH (2002) Development of a web site for the genetic epidemiology of endometriosis. Fertil Steril 78: 777–781\nInteressenkonflikt:\nDer korrespondierende Autor versichert, dass keine Verbindungen mit einer Firma, deren Produkt in dem Artikel genannt ist, oder einer Firma, die ein Konkurrenzprodukt vertreibt, bestehen.\nAuthor information\nAuthors and Affiliations\nCorresponding author\nRights and permissions\nAbout this article\nCite this article\nWieser, F., Wenzl, R., Taylor, R.N. et al. Genetik der Endometriose. Gynäkologe 37, 669–673 (2004). https://doi.org/10.1007/s00129-004-1558-z\nIssue date:\nDOI: https://doi.org/10.1007/s00129-004-1558-z","source_license":"CC0","license_restricted":false}