Genetik der Endometriose

Zusammenfassung Die 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. Abstract Endometriosis 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. Similar content being viewed by others Literatur Attia 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 Barnhart K, Dunsmoor-Su R, Coutifaris C (2002) Effect of endometriosis on in vitro fertilization. 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Fertil Steril 78: 777–781 Interessenkonflikt: Der korrespondierende Autor versichert, dass keine Verbindungen mit einer Firma, deren Produkt in dem Artikel genannt ist, oder einer Firma, die ein Konkurrenzprodukt vertreibt, bestehen. Author information Authors and Affiliations Corresponding author Rights and permissions About this article Cite this article Wieser, 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 Issue date: DOI: https://doi.org/10.1007/s00129-004-1558-z