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Suggestive associations between genetically predicted gut microbiota and endometriosis: a two-sample Mendelian
Liyun Liao1, Zhixiang Zhou1, Xiaoyang Ye1
1Gynecology, Xiangshan First People's Hospital Medical and Health Group, Ningbo City, Zhejiang Province, 315700, PR China.
Journal of Medical Microbiology
|July 1, 2026
Summary
This study used Mendelian randomization to investigate gut bacteria and endometriosis risk. While some associations were found, no definitive causal links between gut microbiota and endometriosis were established after correction for multiple testing.
Area of Science:
- Genetics
- Microbiology
- Epidemiology
Background:
- Endometriosis affects 10-20% of reproductive-age women.
- Emerging evidence suggests a link between gut microbiota and endometriosis, but observational studies face limitations like confounding and reverse causation.
- Robust causal evidence for gut microbiota's role in endometriosis is lacking.
Purpose of the Study:
- To explore potential Mendelian randomization (MR)-based associations between genetically predicted gut microbiota composition and endometriosis risk.
- To address the gap in understanding genetically predicted gut microbial associations with endometriosis.
- To investigate causal relationships using a two-sample MR framework.
Main Methods:
- Utilized genome-wide association study (GWAS) summary statistics for 119 bacterial genera (MiBioGen consortium) and endometriosis (FinnGen).
- Selected single nucleotide polymorphisms (SNPs) as instrumental variables for each genus, applying linkage disequilibrium clumping and weak instrument exclusion.
- Employed inverse-variance weighting (IVW) as the primary analysis, supported by complementary methods, with Benjamini-Hochberg false discovery rate (FDR) correction applied across all genera.
Main Results:
- Seven bacterial genera showed nominally significant associations with endometriosis risk (P<0.05) using IVW.
- Specific genera like *Olsenella* and *Anaerotruncus* were directionally associated with increased risk, while others suggested reduced risk.
- None of the identified associations survived FDR correction (all FDR-adjusted P=0.731), indicating no statistically significant causal links after accounting for multiple testing.
Conclusions:
- The study provides exploratory and suggestive MR evidence for potential associations between specific gut microbial genera and endometriosis.
- No definitive causal evidence was established, as no associations remained significant after multiple testing correction.
- Results are hypothesis-generating and necessitate replication in larger, ancestry-matched cohorts to confirm potential links between gut microbiota and endometriosis.
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