UGT1A1 (TA)n promoter genotype: diagnostic and population pharmacogenetic marker in Serbia
Marija Vukovic1, Nedeljko Radlovic2, Zoran Lekovic2, Ksenija Vucicevic3, Nina Maric4, Nikola Kotur5, Vladimir Gasic5, Milena Ugrin5, Maja Stojiljkovic5, Lidija Dokmanovic6, Branka Zukic5, Sonja Pavlovic5*
*Corresponding Author: Sonja Pavlovic Laboratory for Molecular Biomedicine Institute of Molecular Genetics and Genetic Engineering, University of Belgrade Vojvode Stepe 444a, PO BOX 23 11010 Belgrade, Serbia E-mail: sonya@sezampro.rs Tel: (+) 38111 3976445 Fax: (+) 38111 3975808
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Abstract

UGT1A1 enzyme is involved in metabolism of bilirubin and numerous medications. Non-conjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of UGT1A1 enzyme, Variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and 8 TA repeats cause a decrease of UGT1A1 activity -risk GS alleles, while 6 TA repeats contribute to normal UGT1A1 activity- non-risk GS allele. Also, the UGT1A1 (TA)n promoter genotype is recognized as clinically relevant pharmacogenetic marker. The aim of the study was to assess diagnostic value of UGT1A1 (TA)n promoter genotyping in pediatric GS patients. Correlation of UGT1A1 (TA)n genotypes and level of non-conjugated bilirubin at diagnosis and after hypocaloric and phenobarbitone tests in these patients was analyzed. Another aim of the study was to assess pharmacogenetic potential of UGT1A1 (TA)n variants in Serbia. Fifty-one pediatric GS patients and 100 healthy individuals were genotyped using different methodology - PCR followed by acrylamide electrophoresis, fragment length analysis and/or DNA sequencing. Concordance of the UGT1A1 (TA)n promoter risk GS genotypes with GS was found in 80% of patients. Therefore, UGT1A1 (TA)n promoter genotyping is not reliable genetic test for GS, but it is useful for differential diagnosis of diseases associated with hyperbilirubinemia. Level of bilirubin in pediatric GS patients at diagnosis was UGT1A1 (TA)n promoter genotype-dependent. We found that the frequency of pharmacogenetic relevant UGT1A1 (TA)n promoter genotypes is 63%, pointing out that UGT1A1 (TA)n promoter genotyping could be recommended for preemptive pharmacogenetic testing in Serbia.



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