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Updated: Aug 15, 2025

Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
Published on: October 15, 2019
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis
Kangcheng Liu1, Pengfei Wu2, Jing Zou3
1Jiangxi Clinical Research Center for Ophthalmic Disease, Jiangxi Research Institute of Ophthalmology and Visual Science, Affiliated Eye Hospital of Nanchang University, 463 Bayi Road, Nanchang, 330006, Jiangxi, China.
Background:
It is unclear whether gut microbiota (GM) affects the risk of optic neuritis (ON) through the "gut-brain" axis and the "gut-retina" axis. To examine the causal relationship between GM and ON, we conducted Mendelian randomization (MR) study.
Methods:
Up to 18,340 samples of 24 population-based cohorts were included in genome-wide association study (GWAS) of 196 GM taxa. ON outcomes were selected from the FinnGen GWAS (951 ON cases and 307,092 controls). In addition, the GWAS based on UK Biobank (UKB) (105 ON cases and 456,243 controls) was used for further exploration. Inverse variance weighted (IVW) was carried out to estimate their effects on ON risk and the MR assumptions were evaluated in sensitivity analyses.
Results:
Among the 196 GM taxa, the IVW results confirmed that Family -Peptococcaceae (P = 2.17 × 10-3), Genus- Hungatella (P = 4.57 × 10-3) and genus-Eubacterium_rectale_group (P = 0.02) were correlated with the risk of ON based on Finngen GWAS. Based on data from UKB, Genus- Eubacterium_hallii_group (P = 1.50 × 10-3) and Genus- Ruminococcaceae_UCG_002 (P = 0.02) were correlated with the risk of ON. At the phylum, class and order levels, no GM taxa were causally related to ON (P > 0.05). Heterogeneity (P > 0.05) and pleiotropy (P > 0.05) analysis confirmed the robustness of the MR results.
Conclusion:
Our MR findings support the causal effect of specific GM taxa on ON. GM may affect the risk of ON through the "gut-brain" axis and the "gut-retina" axis. However, further research is needed to confirm the relevant mechanism of the relationship between GM and ON.
Insights
This study suggests specific gut bacteria influence optic neuritis risk via the gut-brain and gut-retina axes. Further research is needed to confirm these gut microbiota connections.
Area of Science:
- Microbiome research
- Neuroimmunology
- Ophthalmology
Background:
- The relationship between gut microbiota (GM) and optic neuritis (ON) risk is not fully understood.
- Potential pathways include the
- gut-brain
- and
- gut-retina
- axes.
Purpose of the Study:
- To investigate the potential causal relationship between gut microbiota composition and the risk of developing optic neuritis.
- To explore the role of the gut-brain and gut-retina axes in this association.
Main Methods:
- A Mendelian randomization (MR) study was conducted using genome-wide association study (GWAS) data from up to 18,340 samples across 24 cohorts for 196 gut microbiota taxa.
- Optic neuritis outcomes were analyzed using GWAS data from FinnGen and UK Biobank.
Main Results:
- Specific gut bacteria, including Family -Peptococcaceae, Genus- Hungatella, and Genus- Eubacterium_rectale_group, were found to be associated with ON risk in the FinnGen cohort.
- Genus- Eubacterium_hallii_group and Genus- Ruminococcaceae_UCG_002 showed correlations with ON risk in the UK Biobank data.
- No causal relationships were identified at the phylum, class, or order levels of gut microbiota.
Conclusions:
- The MR findings suggest a causal effect of certain gut microbiota taxa on optic neuritis risk.
- Gut microbiota may influence optic neuritis through the gut-brain and gut-retina axes.
- Further investigation is required to elucidate the precise mechanisms underlying the gut microbiota-optic neuritis relationship.
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