Molecular-genetic determinants of the development of endometriosis

Irina Ponomarenko, Alexey Polonikov, I.N. Verzilina, Mikhail Churnosov
In: Voprosy ginekologii, akušerstva i perinatologii · 2019 · vol. 18(1) , pp. 82–86 · doi:10.20953/1726-1678-2019-1-82-86 · W2937669134
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This systematic review analyzes the current literature on the molecular-genetic determinants contributing to the development of endometriosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

This paper provides a systematic literature analysis of molecular-genetic determinants implicated in endometriosis development, focusing on polymorphic loci identified by genome-wide association studies. It reports that more than 20 associated loci have been detected, accounting for roughly 5% of endometriosis variability, and that the inferred gene network spans multiple functional categories including hormone signaling, tumor suppressors, detoxification systems, cytokines, and pathways related to embryonic development and cell proliferation. The authors also highlight epigenetic mechanisms—including DNA methylation, histone modifications, and microRNAs—as playing a significant role, with the major caveat that the discussion is based on aggregated published data rather than new experimental testing. This paper is centrally about endometriosis — a molecular-genetic and epigenetic review of determinants of its development.

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Abstract

Систематический анализ данных о молекулярно-генетических детерминантах развития эндометриоза, имеющихся в современной литературе
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Gynecology, Obstetrics and Perinatology - Gynecology, Obstetrics and Perinatology - 2019 volume 18 issue 1 Molecular-genetic determinants of the development of endometriosis Authors / Institutions I.V.Ponomarenko / A.V.Polonikov / Irina N. Verzilina / M.I.Churnosov / The work presents a systematic analysis of data available in modern literature concerning molecular-genetic determinants of the development of endometriosis. By now, over 20 polymorphic loci associated with the development of endometriosis have been detected that are significant for GWAS, and they determine approximately 5% of its changeability. The gene network of endometriosis includes genes of hormones and their receptors, tumour suppressors, systems of detoxification, cytokines and their receptors, embryonic development and cell proliferation and others, involved in over 30 metabolic pathways. A significant role in the development of endometriosis belongs to epigenetic factors (levels of DNA methylation, modifications of histone proteins, microRNA). Key words: candidate genes, endometriosis, epigenetics. For citation: Ponomarenko I.V., Polonikov A.V., Verzilina I.N., Churnosov M.I. Molecular-genetic determinants of the development of endometriosis. Vopr. ginekol. akus. perinatol. (Gynecology, Obstetrics and Perinatology). 2019; 18(1): 82–86. (in Russian). DOI: 10.20953/1726-1678-2019-1-82-86 Key words: candidate genes, endometriosis, epigenetics. For citation: Ponomarenko I.V., Polonikov A.V., Verzilina I.N., Churnosov M.I. Molecular-genetic determinants of the development of endometriosis. Vopr. ginekol. akus. perinatol. (Gynecology, Obstetrics and Perinatology). 2019; 18(1): 82–86. (in Russian). DOI: 10.20953/1726-1678-2019-1-82-86

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endometriosis

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