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Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study
Zhijuan Liu1, Minggang Ye2, Huiya Jin1
1Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Microbiologyopen
|November 7, 2025
Summary
Gut bacteria, specifically the Family XIII AD3011 group, may lower phenylalanine (Phe) levels. This finding suggests a potential link between gut microbiota and phenylketonuria (PKU) management.
Area of Science:
- Human Gut Microbiome Research
- Metabolic Disorders Genetics
Background:
- Phenylketonuria (PKU) is a genetic disorder affecting phenylalanine metabolism.
- The role of gut microbiota in PKU pathogenesis is not well understood.
Purpose of the Study:
- To investigate the causal relationship between gut microbial composition and phenylalanine (Phe) levels.
- To identify specific gut bacteria associated with Phe levels in individuals.
Main Methods:
- Utilized a two-sample Mendelian randomization (MR) approach.
- Employed genome-wide association study (GWAS) summary statistics from the MiBioGen Global Consortium for gut microbiota and Phe levels.
- Applied inverse variance weighting (IVW) as the primary analytical method, supplemented with pleiotropy and heterogeneity tests.
Main Results:
- The Family XIII AD3011 group of gut microbiota demonstrated a protective effect on Phe levels (OR=0.962, p<0.001).
- This association remained statistically significant after FDR correction (adjusted p=0.027).
- No significant evidence of heterogeneity or horizontal pleiotropy was detected.
Conclusions:
- The Family XIII AD3011 gut bacteria are associated with reduced Phe levels.
- Findings suggest a potential causal link between specific gut microbiota and Phe levels, relevant to PKU.
- Further research is warranted to validate and quantify this association.
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