P299: Gilbert's gambit: Evaluating ancestry-specific effects of UGT1A1*28 by phenome-wide association studies in the All of Us Research Program
Abstract
Gilbert syndrome (GS) is a prevalent autosomal recessive disorder characterized by mild to moderate unconjugated hyperbilirubinemia, jaundice, and an elevated risk of drug toxicity. Conversely, it has been hypothesized that GS may confer protective effects against cardiovascular diseases, metabolic disorders, and certain malignancies, potentially attributable to the antioxidant properties of bilirubin. GS results from biallelic variation in UGT1A1, most commonly the *28 allele (NM_000463.2:c.-53_-52TA[8]), which reduces bilirubin glucuronidation.
Fields of Study & Subjects
Neonatal Health and Biochemistry
Pharmacogenetics and Drug Metabolism
Genetic Associations and Epidemiology
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103793–103793
- Publication date
- 1 January 2026
- Language
- EN