[Causal relationship between gut microbiota and pigmented villonodular synovitis: a Mendelian randomization analysis]

Area of Science:

• Gastroenterology and Rheumatology
• Microbiome Research
• Genetic Epidemiology

Context:

• Pigmented villonodular synovitis (PVNS) is a rare joint disorder with unclear etiology.
• The gut microbiome's role in inflammatory and autoimmune conditions is increasingly recognized.
• Understanding the interplay between gut bacteria and PVNS could reveal novel therapeutic targets.

Purpose:

• To investigate the potential causal relationship between gut microbiome composition and the risk of developing pigmented villonodular synovitis (PVNS).
• To utilize a two-sample Mendelian randomization (MR) approach to assess causality.
• To analyze genetic association data from genome-wide association studies (GWAS) for 211 gut microbiome taxa and PVNS.

Summary:

• A two-sample Mendelian randomization analysis was performed using GWAS data for 211 gut microbiome taxa and PVNS.
• Increased abundance of Barnesiella and Ruminococcaceae UCG010 showed a potential causal link to increased PVNS risk.
• Conversely, elevated levels of Lachnospiraceae, Alistipes, Blautia, Lachnospiraceae FCS020 group, and Ruminococcaceae UCG014 were associated with a reduced risk of PVNS.
• Sensitivity analyses confirmed the robustness of these findings, and reverse MR analysis found no inverse causal association.

Impact:

• This study suggests that gut microbiota plays a significant role in the pathogenesis of PVNS.
• Specific gut microbial taxa are associated with either increased or decreased risk of PVNS.
• Findings may pave the way for microbiome-targeted interventions for PVNS prevention or treatment.