Time for global health policy and research leaders to prioritize endometriosis

Giudice, Linda C.; Horne, Andrew W.; Missmer, Stacey A.

doi:10.1038/s41467-023-43913-9

Cited by 14 publications

(3 citation statements)

References 15 publications

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“…Notably, proposed hypotheses such as retrograde menstruation, coelomic metaplasia, and Müllerian remnants do not explain the etiology of all the different phenotypes of endometriosis (i.e., superficial, ovarian and deep infiltrating endometriosis) [ 4 ]. Thus, endometriosis represents an important public health concern with substantial effects on the quality of life of millions of women globally [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Gut microbiome in endometriosis: a cohort study on 1000 individuals

Pérez-Prieto,

Vargas,

Salas-Espejo

et al. 2024

BMC Med

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Background Endometriosis, defined as the presence of endometrial-like tissue outside of the uterus, is one of the most prevalent gynecological disorders. Although different theories have been proposed, its pathogenesis is not clear. Novel studies indicate that the gut microbiome may be involved in the etiology of endometriosis; nevertheless, the connection between microbes, their dysbiosis, and the development of endometriosis is understudied. This case–control study analyzed the gut microbiome in women with and without endometriosis to identify microbial targets involved in the disease. Methods A subsample of 1000 women from the Estonian Microbiome cohort, including 136 women with endometriosis and 864 control women, was analyzed. Microbial composition was determined by shotgun metagenomics and microbial functional pathways were annotated using the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Partitioning Around Medoids (PAM) algorithm was performed to cluster the microbial profile of the Estonian population. The alpha- and beta-diversity and differential abundance analyses were performed to assess the gut microbiome (species and KEGG orthologies (KO)) in both groups. Metagenomic reads were mapped to estrobolome-related enzymes’ sequences to study potential microbiome-estrogen metabolism axis alterations in endometriosis. Results Diversity analyses did not detect significant differences between women with and without endometriosis (alpha-diversity: all p-values > 0.05; beta-diversity: PERMANOVA, both R2 < 0.0007, p-values > 0.05). No differential species or pathways were detected after multiple testing adjustment (all FDR p-values > 0.05). Sensitivity analysis excluding women at menopause (> 50 years) confirmed our results. Estrobolome-associated enzymes’ sequence reads were not significantly different between groups (all FDR p-values > 0.05). Conclusions Our findings do not provide enough evidence to support the existence of a gut microbiome-dependent mechanism directly implicated in the pathogenesis of endometriosis. To the best of our knowledge, this is the largest metagenome study on endometriosis conducted to date.

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Section: Introductionmentioning

confidence: 99%

Gut microbiome in endometriosis: a cohort study on 1000 individuals

Pérez-Prieto,

Vargas,

Salas-Espejo

et al. 2024

BMC Med

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“…Endometriosis is defined as a debilitating gynecological disorder characterized by the presence of endometrial-like tissue outside the uterine cavity. This chronic widespread condition affecting up to 10% of women of reproductive age commonly causes pelvic pain, infertility and menstrual irregularities, among other symptoms [2]. Uterine leiomyomas, often known as fibroids, are benign smooth muscle tumors that arise within the uterine wall and are prevalent in up to 70% of women by the age of 50, often causing symptoms such as abnormal uterine bleeding, pelvic pressure, and reproductive dysfunction [3].…”

Section: Introductionmentioning

confidence: 99%

Comparative Analysis of Shapley Values Enhances Transcriptomics Insights across Some Common Uterine Pathologies

Castro-Martínez,

Vargas,

Díaz-Beltrán

et al. 2024

Preprint

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Uterine pathologies pose a challenge to women’s health on a global scale. Despite extensive research, the causes and origin of some of these common disorders are not well defined yet. This study presents a comprehensive analysis of transcriptome data from diverse datasets encompassing relevant uterine pathologies such as endometriosis, endometrial cancer and uterine leiomyomas. Leveraging the Comparative Analysis of Shapley values (CASh) technique, we demonstrate its efficacy in improving the outcomes of classical differential expression analysis on transcriptomic data derived from microarray experiments. CASh integrates the Microarray game algorithm with Bootstrap resampling, offering a robust statistical framework to mitigate the impact of potential outliers in the expression data. Our findings unveil novel insights into the molecular signatures underlying these gynecological disorders, highlighting CASh as a valuable tool for enhancing the precision of transcriptomics analyses in complex biological contexts. This research contributes to a deeper understanding of gene expression patterns and potential biomarkers associated with these pathologies, offering implications for future diagnostic and therapeutic strategies.

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“…It impacts about 10% of women in their reproductive years, and potentially more due to undiagnosed cases [ 3 ]. The main symptom of endometriosis is pelvic pain, linked to the menstrual cycle and manifesting as painful periods, pain during intercourse, and chronic pelvic pain, which can severely impair daily activities [ 4 ]. Additionally, 30–50% of affected women experience infertility.…”

Section: Introductionmentioning

confidence: 99%

Comparative Analysis of Shapley Values Enhances Transcriptomics Insights across Some Common Uterine Pathologies

Castro-Martínez,

Vargas,

Díaz-Beltrán

et al. 2024

Genes

View full text Add to dashboard Cite

Uterine pathologies pose a challenge to women’s health on a global scale. Despite extensive research, the causes and origin of some of these common disorders are not well defined yet. This study presents a comprehensive analysis of transcriptome data from diverse datasets encompassing relevant uterine pathologies such as endometriosis, endometrial cancer and uterine leiomyomas. Leveraging the Comparative Analysis of Shapley values (CASh) technique, we demonstrate its efficacy in improving the outcomes of the classical differential expression analysis on transcriptomic data derived from microarray experiments. CASh integrates the microarray game algorithm with Bootstrap resampling, offering a robust statistical framework to mitigate the impact of potential outliers in the expression data. Our findings unveil novel insights into the molecular signatures underlying these gynecological disorders, highlighting CASh as a valuable tool for enhancing the precision of transcriptomics analyses in complex biological contexts. This research contributes to a deeper understanding of gene expression patterns and potential biomarkers associated with these pathologies, offering implications for future diagnostic and therapeutic strategies.

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Time for global health policy and research leaders to prioritize endometriosis

Cited by 14 publications

References 15 publications

Gut microbiome in endometriosis: a cohort study on 1000 individuals

Gut microbiome in endometriosis: a cohort study on 1000 individuals

Comparative Analysis of Shapley Values Enhances Transcriptomics Insights across Some Common Uterine Pathologies

Comparative Analysis of Shapley Values Enhances Transcriptomics Insights across Some Common Uterine Pathologies

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