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.

Abstract excerpt

INTRODUCTION: Gilbert Syndrome (GS) is a common hereditary disorder characterized by intermittent jaundice. The pathogenesis is unconjugated hyperbilirubinemia due to reduced hepatic UDP-glucuronosyltransferase 1A1 (UGT1A1) activity. Its genetic basis relies on c.-3279T > G polymorphism (UGT1A1*60), which reduces gene transcription by approximately 40%, and is highly prevalent in Asian populations. AIMS: This...

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