The role of genetic factors in developing endometrioid lesions

Here, we analyze the data on genetic factors involved in developing endometriosis available in current publications. To date, the genome-wide associative studies (GWAS) have revealed more than 190 loci associated with endometriosis development, however, only few polymorphisms were associated with this disease identified in two GWAS (rs1537377 CDKN2B-AS1, rs71575922 SYNE1, rs11674184 GREB1, rs1903068 KDR, rs2235529 WNT4, rs7412010 CDC42), and only one rs12700667 TSEN15P3/MIR148A polymorphic locus in four studies. Several polymorphisms located in the region of two genes GREB1 (rs11674184, rs13394619, rs35417544) and WNT4 (rs2235529, rs12037376, rs7521902) are associated with endometriosis in several GWAS. The association of 5 polymorphic loci with endometriosis was confirmed in two or more replication studies: rs13394619 GREB1, rs7521902 MIR4418/WNT4, rs1250248 FN1 and rs6542095 CKAP2L/IL1A – in two studies, rs12700667 TSEN15P3/MIR148A – in four studies. At the same time, the relationship between the vast majority of GWAS-significant polymorphic loci (more than 95 %) and endometriosis has not been confirmed in other independent studies, necessitating a need to continue endometriosis-related genetic studies, including those aimed at confirming previously identified associations. About the Authors T. A. PonomarevaRussian Federation Tatiana A. Ponomareva – MD, Postgraduate Student, Department of Medical and Biological Disciplines, Belgorod National Research University; Obstetrician-Gynecologist, Obstetric Department, Belgorod Regional Clinical Hospital of St. Joasaph 85 Pobedy Str., Belgorod 308015 8/9 Nekrasova Str., Belgorod 308000 O. B. Altukhova Russian Federation Oxana B. Altukhova – MD, Dr Med Sci, Associate Professor, Head of the Department of Obstetrics and Gynecology, Belgorod National Research University; Head of Gynecological Department, Belgorod Regional Clinical Hospital of St. Joasaph Scopus Author ID: 57216900558 85 Pobedy Str., Belgorod 308015 8/9 Nekrasova Str., Belgorod 308000 I. V. Ponomarenko Russian Federation Irina V. Ponomarenko – MD, Dr Med Sci, Associate Professor, Department of Medical and Biological Disciplines Scopus Author ID: 57190225823 85 Pobedy Str., Belgorod 308015 M. I. Churnosov Russian Federation Mikhail I. Churnosov – MD, Dr Med Sci, Professor, Head of the Department of Medical and Biological Disciplines Scopus Author ID: 6601948788 85 Pobedy Str., Belgorod 308015

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Review For citations: Ponomareva T.A., Altukhova O.B., Ponomarenko I.V., Churnosov M.I. The role of genetic factors in developing endometrioid lesions. Obstetrics, Gynecology and Reproduction. 2023;17(4):443-454. (In Russ.) https://doi.org/10.17749/2313-7347/ob.gyn.rep.2023.434 JATS XML This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.