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Review

Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies

1
Reproductive Sciences Laboratory, Obstetrics and Gynecology Unit, IRCCS Ospedale San Raffaele, 20132 Milan, Italy
2
Obstetrics and Gynecology Unit, IRCCS Ospedale San Raffaele, 20132 Milan, Italy
3
Department of Clinical Sciences and Community Health, Università degli Studi di Milano, 20122 Milan, Italy
4
Infertility Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy
*
Author to whom correspondence should be addressed.
The first two authors equally contributed.
Int. J. Mol. Sci. 2021, 22(16), 9033; https://doi.org/10.3390/ijms22169033
Submission received: 1 July 2021 / Revised: 17 August 2021 / Accepted: 19 August 2021 / Published: 21 August 2021
(This article belongs to the Special Issue Endometriosis: Biological Targets and New Therapeutical Approaches)

Abstract

According to a rich body of literature, immune cell dysfunctions, both locally and systemically, and an inflammatory environment characterize all forms of endometriosis. Alterations in transcripts and proteins involved in the recruitment of immune cells, in the interaction between cytokines and their receptors, cellular adhesion and apoptosis have been demonstrated in endometriotic lesions. The objective of this narrative review is to provide an overview of the components and mechanisms at the intersection between inflammation and genetics that may constitute vanguard therapeutic approaches in endometriosis. The GWAS technology and pathway-based analysis highlighted the role of the MAPK and the WNT/β-catenin cascades in the pathogenesis of endometriosis. These signaling pathways have been suggested to interfere with the disease establishment via several mechanisms, including apoptosis, migration and angiogenesis. Extracellular vesicle-associated molecules may be not only interesting to explain some aspects of endometriosis progression, but they may also serve as therapeutic regimens per se. Immune/inflammatory dysfunctions have always represented attractive therapeutic targets in endometriosis. These would be even more interesting if genetic evidence supported the involvement of functional pathways at the basis of these alterations. Targeting these dysfunctions through next-generation inhibitors can constitute a therapeutic alternative for endometriosis.
Keywords: endometriosis; inflammation; extracellular vesicles; genetics endometriosis; inflammation; extracellular vesicles; genetics

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MDPI and ACS Style

Giacomini, E.; Minetto, S.; Li Piani, L.; Pagliardini, L.; Somigliana, E.; Viganò, P. Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies. Int. J. Mol. Sci. 2021, 22, 9033. https://doi.org/10.3390/ijms22169033

AMA Style

Giacomini E, Minetto S, Li Piani L, Pagliardini L, Somigliana E, Viganò P. Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies. International Journal of Molecular Sciences. 2021; 22(16):9033. https://doi.org/10.3390/ijms22169033

Chicago/Turabian Style

Giacomini, Elisa, Sabrina Minetto, Letizia Li Piani, Luca Pagliardini, Edgardo Somigliana, and Paola Viganò. 2021. "Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies" International Journal of Molecular Sciences 22, no. 16: 9033. https://doi.org/10.3390/ijms22169033

APA Style

Giacomini, E., Minetto, S., Li Piani, L., Pagliardini, L., Somigliana, E., & Viganò, P. (2021). Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies. International Journal of Molecular Sciences, 22(16), 9033. https://doi.org/10.3390/ijms22169033

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