WIREs Mechanisms of Disease

Volume 15, Issue 6 e1624

Advanced Review

Recent insights explaining susceptibility to endometriosis—From genetics to environment

Ana Sofia Pais,

Ana Sofia Pais

orcid.org/0000-0002-1977-5258

Reproductive Medicine Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

CNC-Center for Neuroscience and Cell Biology, CIBB, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

Institute of Biophysics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal

Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal

Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal

Centre of Investigation in Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Coimbra, Portugal

Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal

Contribution: Conceptualization (equal), Data curation (equal), Resources (equal), Writing - original draft (equal), Writing - review & editing (equal)

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Teresa Almeida-Santos,

Corresponding Author

Teresa Almeida-Santos

[email protected]

orcid.org/0000-0001-7423-2996

Reproductive Medicine Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

CNC-Center for Neuroscience and Cell Biology, CIBB, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

Correspondence

Teresa Almeida-Santos, Reproductive Medicine Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, 3000-075, Portugal.

Email: [email protected]

Contribution: Conceptualization (equal), Writing - original draft (equal)

Search for more papers by this author

Ana Sofia Pais,

Ana Sofia Pais

orcid.org/0000-0002-1977-5258

Reproductive Medicine Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

CNC-Center for Neuroscience and Cell Biology, CIBB, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

Institute of Biophysics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal

Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal

Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal

Centre of Investigation in Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Coimbra, Portugal

Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal

Contribution: Conceptualization (equal), Data curation (equal), Resources (equal), Writing - original draft (equal), Writing - review & editing (equal)

Search for more papers by this author

Teresa Almeida-Santos,

Corresponding Author

Teresa Almeida-Santos

[email protected]

orcid.org/0000-0001-7423-2996

Reproductive Medicine Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

CNC-Center for Neuroscience and Cell Biology, CIBB, University of Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

Correspondence

Teresa Almeida-Santos, Reproductive Medicine Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, 3000-075, Portugal.

Email: [email protected]

Contribution: Conceptualization (equal), Writing - original draft (equal)

Search for more papers by this author

First published: 02 August 2023

https://doi.org/10.1002/wsbm.1624

Citations: 3

Edited by: João Ramalho-Santos, Editor

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Abstract

Endometriosis is a disease with a heterogeneous pathogenesis, explained by multiple theories, and also with a polymorphic presentation. The purpose of this literature review is to systematize the genetic, inflammatory, and environmental factors related to the pathophysiology of endometriosis. Current evidence suggests that endometriosis is a complex inherited genetic condition, in which the genes that determine susceptibility to the disease interact with the environment to develop different phenotypes. Genetic variants associated with risk of endometriosis have been identified in several genome-wide association studies, in addition to a group of genes related to the pathophysiology of endometriosis, namely the estrogen, progesterone and androgen receptors and the cytochrome P450 gene, as well as the p53 gene. The role of inflammation is controversial; however, it is an essential process, both in the initiation and perpetuation of the disease, in and outside the pelvis. Alterations in reactive oxygen species pathways that consequently determine oxidative stress are typical in the inflammatory environment of endometriosis. The role of environmental factors is a relatively new and broad-spectrum topic, with inconsistent evidence. Multiple factors have been studied such as endocrine-disrupting chemicals, metals, intrauterine exposure to diethylstilbesterol and lifestyle risk factors. In conclusion, endometriosis remains a mysterious condition, with multifactorial factors involved in its pathophysiology. The progress that has been made in the genetic predisposition to endometriosis may allow the establishment of new therapeutic targets. On the other hand, understanding the role of the environment in this disease may allow preventive intervention, minimizing its incidence and/or severity.

This article is categorized under:

Reproductive System Diseases > Molecular and Cellular Physiology
Reproductive System Diseases > Environmental Factors
Reproductive System Diseases > Genetics/Genomics/Epigenetics

Graphical Abstract

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CONFLICT OF INTEREST STATEMENT

The authors declare no conflict of interest.

Open Research

DATA AVAILABILITY STATEMENT

Data sharing not applicable – no new data generated, or the article describes entirely theoretical research.

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Volume15, Issue6

November/December 2023

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