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DNA methylation associated with polycystic ovary syndrome: a systematic review

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Abstract

Purpose

Polycystic ovary syndrome (PCOS) is an endocrine metabolic disease that affects women of reproductive age and is one of the main causes of anovulatory infertility. However, the cause of PCOS is yet fully understood, and genetic factors play an important role in its etiology. In this study, we reviewed the main genes involved in the etiology of PCOS and the influence of DNA methylation, aiming to answer the study´s guiding question: ‘What is the influence of DNA methylation on the main genes involved in PCOS?’.

Methods

We used the MEDLINE database, and inclusion criteria (primary and original articles, written in English, found through our entry terms) and exclusion criteria (literature reviews and articles that used animals to perform the experiments and that focused in other epigenetics mechanism without being DNA methylation) were applied.

Results

Twenty-three scientific articles, from a total of 43 articles read in full, were chosen for this study. Eighteen studies confirmed DNA methylation associated with PCOS.

Conclusion

The most relevant genes related to PCOS were INSR, LHCGR, and RAB5B, which may be epigenetically altered in DNA, with the first two genes hypomethylated and the last hypermethylated. The epigenetic changes presented in the genes related to PCOS or their promoters were only at the CpG sites.

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Data availability

All data relevant to the review are included in the article or uploaded as supplementary information.

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Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

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Authors and Affiliations

  1. Curso de Medicina, Campus Ministro Reis Velloso, Universidade Federal do Delta do Parnaíba (UFDPar), Parnaíba, Piauí, Brazil

    Arícia Gomes Miranda & Luciana Rocha Faustino

  2. Laboratório de Reprodução Animal, Centro de Ciências Agrárias, Universidade Estadual de Londrina (UEL), Londrina, Paraná, Brazil

    Marcelo Marcondes Seneda

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Contributions

All authors contributed to the study writing and data management. The study conception, design, and data collection were performed by AGM and LRF. The first draft of the manuscript was written by AGM and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. AGM: data collection, management, and analysis, manuscript writing. MMS: data management and analysis; manuscript editing. LRF: data collection, management, and analysis, manuscript writing/editing.

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Correspondence to Luciana Rocha Faustino.

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Miranda, A.G., Seneda, M.M. & Faustino, L.R. DNA methylation associated with polycystic ovary syndrome: a systematic review. Arch Gynecol Obstet 309, 373–383 (2024). https://doi.org/10.1007/s00404-023-07025-5

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