UGT1A1 (TA)_n Promoter Genotype: Diagnostic and Population Pharmacogenetic Marker in Serbia.

ABSTRACT: The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele. Also, the UGT1A1 (TA)_n promoter genotype is recognized as a clinically relevant pharmacogenetic marker. The aim of this study was to assess diagnostic value of UGT1A1 (TA)_n promoter genotyping in pediatric GS patients. Correlation of the UGT1A1 (TA)_n genotypes a

SUBMITTER: Vukovic M 

PROVIDER: S-EPMC6231317 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature