What question did this study set out to answer?

This study aims to examine the genetic, biochemical, and clinical characteristics of Gilbert syndrome in a Nepali population, focusing on UGT1A1 polymorphisms.

April 15, 2026PLoS ONEOpen Access

Genetic, clinical, and biochemical profiling of Gilbert syndrome in a Nepali cohort: High prevalence of the UGT1A1 c.-3279T>G polymorphism and correlation with hematological parameters

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Authors

PGPragya Gautam Ghimire PGPrasanna Ghimire RPRajan Pande

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Descriptive study profiles genetic characteristics of Gilbert Syndrome, revealing high UGT1A1 polymorphism rates in Nepalese individuals.

Key Points

This study aims to examine the genetic, biochemical, and clinical characteristics of Gilbert syndrome in a Nepali population, focusing on UGT1A1 polymorphisms.
Utilized a prospective descriptive design with retrospective medical record review.
Analyzed 75 patients with isolated unconjugated hyperbilirubinemia.
Conducted genetic testing for UGT1A1 c.-3279T > G variant via ARMS-PCR.
Excluded patients with hemolysis or hepatobiliary diseases.
Mean cohort age was 28.9 years with a male predominance of 69.3%.
66.7% were homozygous mutant (G/G), 29.3% heterozygous (G/T), and 4% wild-type (T/T).
G allele frequency was found to be 81.3%.
Mean bilirubin levels correlated with genotype: G/G (4.3 mg/dL), G/T (3.2 mg/dL), T/T (2.4 mg/dL).
Hematological parameters were normal with no detection of hepatosplenomegaly.

Cite This Study

Ghimire et al. (2026) studied this question.

synapsesocial.com/papers/69df2ae6e4eeef8a2a6afe1e https://doi.org/10.1371/journal.pone.0347128

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Genetic, clinical, and biochemical profiling of Gilbert syndrome in a Nepali cohort: High prevalence of the UGT1A1 c.-3279T>G polymorphism and correlation with hematological parameters

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Cite This Study

Genetic, clinical, and biochemical profiling of Gilbert syndrome in a Nepali cohort: High prevalence of the UGT1A1 c.-3279T>G polymorphism and correlation with hematological parameters

Discussion

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Implication

Key Points

Cite This Study

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