What question did this study set out to answer?

This research aims to assess the impact of the heterozygous UGT1A1 c.41_40dup variant on bile composition and cholangiopathy in adults with unexplained chronic cholestasis.

July 23, 2026BMC GastroenterologyOpen Access

Beyond Gilbert syndrome: exploring the heterozygous UGT1A1 c.41_40dup variant as a potential modifier of bile composition associated with a cholangiopathic phenotype in adults with unexplained chronic cholestasis

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This research aims to assess the impact of the heterozygous UGT1A1 c.41_40dup variant on bile composition and cholangiopathy in adults with unexplained chronic cholestasis.
Enrolled 17 UDCA-naïve adults with unexplained chronic cholestasis, stratified by genetic profile into three groups.
Assessed biochemical, histological, and clinical features, alongside UGT1A1 activity and bilirubin conjugate composition over 6 months.
Evaluated ALP levels as a benchmark for biochemical evolution.
Patients with UGT1A1 c.41_40dup exhibited significantly reduced enzymatic activity (p < 0.0001) compared to non-carriers.
Carriers demonstrated a higher BMG/BDG ratio (p < 0.0001) and a greater incidence of gallstone-related issues.
At 6 months, 70% of variant carriers displayed elevated ALP levels > 1.9 × ULN, contrasting with 28% of non-carriers, yet this was not statistically significant.

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Implication

Randomized trial investigates bile composition and cholangiopathic phenotype in adults with unexplained chronic cholestasis, suggesting bile's role in disease expression.

Cite This Study

Federico et al. (2026) studied this question.

synapsesocial.com/papers/6a61b056faa9903c5116ae07 https://doi.org/10.1186/s12876-026-05132-6

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Implication

Randomized trial investigates bile composition and cholangiopathic phenotype in adults with unexplained chronic cholestasis, suggesting bile's role in disease expression.

Beyond Gilbert syndrome: exploring the heterozygous UGT1A1 c.41_40dup variant as a potential modifier of bile composition associated with a cholangiopathic phenotype in adults with unexplained chronic cholestasis

Key Points

Discussion

Implication

Cite This Study

Beyond Gilbert syndrome: exploring the heterozygous UGT1A1 c.41_40dup variant as a potential modifier of bile composition associated with a cholangiopathic phenotype in adults with unexplained chronic cholestasis

Key Points

Discussion

Implication

Cite This Study

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