Deciphering the Role of miRNAs in Endometriosis Pathophysiology Using Experimental Endometriosis Mouse Models

Vashisht, Ayushi; Alali, Zahraa; Nothnick, Warren B.

doi:10.1007/978-3-030-51856-1_5

Cited by 3 publications

(2 citation statements)

References 54 publications

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“…Another regulatory pathway that has been investigated in the context of hormone regulation of endometrium/ endometriosis is that of non-coding RNAs (Vashisht et al 2020). Whilst outside the scope of this review the miRNA field is a rapidly expanding one with some promising results linking miRNAs to disease mechanisms (Stejskalova et al 2021).…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis

Saunders

2022

Reproduction and Fertility

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Endometriosis is a chronic neuro-inflammatory disorder the defining feature of which is the growth of tissue (lesions) that resemble the endometrium outside the uterus. Estimates of prevalence quote rates of ~10% of women of reproductive age, ~190 million women world-wide. Genetic, hormonal and immunological factors have all been proposed as contributing to risk factors associated with the development of lesions. Twin studies report the heritable component of endometriosis as ~50%. Genome wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) that appear over-represented in patients with endometriosis, particularly those with more extensive disease (stage III/IV). In different sample populations there has been replication of SNPs near genes involved in oestrogen and other steroid regulated pathways including ESR1 (oestrogen receptor alpha), GREB1, HOXA10, WNT4 and MAPK kinase signalling. Comparisons with GWAS conducted on other patient cohorts have found links with reproductive traits (age at menarche) and disorders (fibroids, endometrial and ovarian cancer) and common co-morbities (migraine, depression, asthma). In summary, genetic analyses have provided new insights into the hormone-regulated pathways that may contribute to increased risk of developing endometriosis some of which may act in early life. New studies are needed to clarify the relationship between the many SNPs identified, the genes that they regulate and their contribution(s) to development of different forms of endometriosis. It is hope that more advanced methods allowing integration between GWAS, epigenetic and tissue expression data will improve risk analysis and reduce diagnositic delay.

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Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis

Saunders

2022

Reproduction and Fertility

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“…The authors reported finding pre-existing aberrant DNA methylation signatures in the cells from women with endometriosis and that these were not uniform throughout the patient group with those found in women with stage IV disease associated with a blunting of response to E2 treatment. The other regulatory pathway that has been investigated in the context of hormone regulation of endometrium/endometriosis is that of non-coding RNAs (Nothnick et al, 2019;Vashisht et al, 2020). Whilst outside the scope of this review the miRNA field is a rapidly expanding one with some promising results linking miRNAs to disease mechanisms (Stejskalova et al, 2021).…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Insights Gained from Genomic Studies on the Role of Sex Steroids in the Aetiology of Endometriosis

Saunders¹

2021

Preprint

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Endometriosis is a chronic neuro-inflammatory disorder the defining feature of which is the growth of tissue (lesions) that resembles the endometrium in sites outside the uterus. Estimates of prevalence typically quote rates of ~10% of women of reproductive age, equating to ~190 million women world-wide. Three subtypes of endometriosis are usually considered when discussing the aetiology of the disorder - superficial peritoneal, ovarian (endometrioma cysts), and deep (infiltrating). Genetic, hormonal and immunological factors have all been proposed as contributing to risk factors associated with the development of lesions. Twin studies report the heritable component of endometriosis as ~50%. Genome wide association studies (GWAS) have been conducted allowing unbiased scanning of the genome for single nucleotide polymorphisms (SNPs) in many thousands of individuals. These studies have identified SNPs that appear over-represented in patients with endometriosis, particularly those with more extensive disease (stage III/IV). Amongst the larger scale GWAS there has been replication of SNPs near genes involved in oestrogen and other signalling pathways including ESR1 (oestrogen receptor alpha), GREB1, HOXA10, WNT4 and MAPK kinase signalling. The results from patients with endometriosis have also provided an opportunity to make comparisons with GWAS conducted on other patient cohorts including those with reproductive traits (age at menarche) and disorders (fibroids, endometrial and ovarian cancer) and conditions that are reported by women with endometriosis (migraine, depression). These comparative studies have highlighted some shared genetically-controlled biological mechanisms, including hormone-regulated pathways which might explain the co-occurrence of endometriosis with these disorders. In summary, unbiased genetic analysis has provided new insights into the genetic factors that may contribute to increased risk of developing endometriosis. New studies are needed to broaden the range of patients contributing to these datasets and to improve integration with non-genomic and tissue expression data before their full potential for diagnosis and improvements in patient care can be fully realised.

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Methylation of microribonucleic acid Let-7b regulatory regions in endometriosis

2022

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Deciphering the Role of miRNAs in Endometriosis Pathophysiology Using Experimental Endometriosis Mouse Models

Cited by 3 publications

References 54 publications

Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis

Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis

Insights Gained from Genomic Studies on the Role of Sex Steroids in the Aetiology of Endometriosis

Methylation of microribonucleic acid Let-7b regulatory regions in endometriosis

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