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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
PubMed

Insights

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.
Keywords:
Mendelian randomizationgut microbiotaphenylalaninephenylketonuria

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