Causal effects of gut microbiome on endometriosis: a two-sample Mendelian randomization study Original paper
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Women’s Health
Women’s Health
Women’s health, a vital aspect of medical science, encompasses various conditions unique to women’s physiological makeup. Historically, women were often excluded from clinical research, leading to a gap in understanding the intricacies of women’s health needs. However, recent advancements have highlighted the significant role that the microbiome plays in these conditions, offering new insights and potential therapies. MicrobiomeSignatures.com is at the forefront of exploring the microbiome signature of each of these conditions to unravel the etiology of these diseases and develop targeted microbiome therapies.
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Endometriosis
Endometriosis
Endometriosis involves ectopic endometrial tissue causing pain and infertility. Validated and Promising Interventions include Hyperbaric Oxygen Therapy (HBOT), Low Nickel Diet, and Metronidazole therapy.
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Karen Pendergrass
Karen Pendergrass is a microbiome researcher specializing in microbiome-targeted interventions (MBTIs). She systematically analyzes scientific literature to identify microbial patterns, develop hypotheses, and validate interventions. As the founder of the Microbiome Signatures Database, she bridges microbiome research with clinical practice. In 2012, based on her own investigative research, she became the first documented case of FMT for Celiac Disease—four years before the first published case study.
Microbiome Signatures identifies and validates condition-specific microbiome shifts and interventions to accelerate clinical translation. Our multidisciplinary team supports clinicians, researchers, and innovators in turning microbiome science into actionable medicine.
Karen Pendergrass is a microbiome researcher specializing in microbiome-targeted interventions (MBTIs). She systematically analyzes scientific literature to identify microbial patterns, develop hypotheses, and validate interventions. As the founder of the Microbiome Signatures Database, she bridges microbiome research with clinical practice. In 2012, based on her own investigative research, she became the first documented case of FMT for Celiac Disease—four years before the first published case study.
What was studied?
This study investigated the causal relationship between gut microbiome composition and endometriosis using a two-sample Mendelian randomization (MR) approach. The researchers aimed to determine whether specific gut microbiota taxa have a direct causal effect on endometriosis risk rather than a mere observational association.
Who was studied?
The study utilized genome-wide association study (GWAS) summary statistics from two major datasets to investigate the causal relationship between gut microbiota and endometriosis. Exposure data on the gut microbiome were obtained from the MiBioGen consortium, which included 18,340 individuals across 24 cohorts from multiple countries. Outcome data for endometriosis were sourced from the FinnGen consortium, comprising 13,456 endometriosis cases and 100,663 controls, all of European ancestry.
Key Findings
The study identified five bacterial taxa with a protective effect against endometriosis and two taxa associated with increased risk. Protective taxa included Clostridiales_vadin_BB60_group, Oxalobacteraceae, Desulfovibrio, Haemophilus, and Holdemania, all of which exhibited odds ratios (OR) below 1, indicating a reduced likelihood of endometriosis in individuals with higher genetic abundance of these bacteria. In contrast, Porphyromonadaceae and Anaerotruncus were associated with increased endometriosis risk, with ORs above 1, suggesting their potential involvement in disease progression. Sensitivity analyses confirmed the robustness of these findings, as no evidence of pleiotropy or heterogeneity was detected, reinforcing the reliability of the causal associations.
Bacterial Taxa | P-Value | Effect |
Clostridiales_vadin_BB60_group | <0.01 | Protective |
Oxalobacteraceae | 0.014 | Protective |
Desulfovibrio | 0.046 | Protective |
Haemophilus | 0.039 | Protective |
Holdemania | 0.025 | Protective |
Porphyromonadaceae | 0.027 | Risk |
Anaerotruncus | <0.01 | Risk |
Greatest Implications
The findings of this study provide genetic evidence supporting a causal relationship between gut microbiota and endometriosis, reinforcing previous observational research. This suggests that targeting the gut microbiome through interventions such as probiotics, dietary modifications, or microbiome-targeted interventions (MBTIs) could be a novel approach to managing or preventing endometriosis. The identification of specific bacterial taxa that either increase or decrease endometriosis risk offers a foundation for developing microbiome-targeted interventions tailored to patient needs. Additionally, these results support the estrobolome hypothesis, which proposes that gut microbiota influence estrogen metabolism, potentially contributing to the pathophysiology of endometriosis. By establishing a causal link, this study highlights the importance of gut microbiota in the broader endocrine and inflammatory mechanisms underlying the disease, paving the way for further research into microbiome-based therapeutic strategies.