Original scientific paper

https://doi.org/10.2478/aiht-2022-73-3663

UGT2B7 c.-161C>T polymorphism frequency in Croatian population

Tamara Božina orcid.org/0000-0001-5883-7979 ; University of Zagreb School of Medicine, Department of Medical Chemistry, Biochemistry, and Clinical Chemistry, Zagreb, Croatia
Ena Karačić orcid.org/0000-0002-2951-5513 ; University of Zagreb Faculty of Pharmacy and Biochemistry, Zagreb, Croatia
Lana Ganoci ; University Hospital Centre Zagreb, Division of Pharmacogenomics and Therapy Individualisation, Department of Laboratory Diagnostics, Zagreb, Croatia
Silvija Čuković-Čavka ; University of Zagreb School of Medicine, University Hospital Centre Zagreb, Department of Gastroenterology, Zagreb, Croatia
Jozefina Palić ; University of Zagreb School of Medicine, Department of Medical Chemistry, Biochemistry, and Clinical Chemistry, Zagreb, Croatia
Nada Božina orcid.org/0000-0001-6016-1699 ; University of Zagreb School of Medicine, Department of Pharmacology, Zagreb, Croatia
Livija Šimičević orcid.org/0000-0002-2491-1920 ; University Hospital Centre Zagreb, Division of Pharmacogenomics and Therapy Individualisation, Department of Laboratory Diagnostics, Zagreb, Croatia

Abstract

Uridine diphosphate glucuronosyltransferase-2B7 (UGT2B7), enzyme responsible for the elimination of a number of xenobiotics through glucuronidation, is expressed in the gut, kidneys, intestines, and brain. However, data on the frequency of UGT2B7 polymorphisms in the Croatian population are limited. The aim of this study was to assess the frequency of the UGT2B7 c.-161C>T (rs7668258) polymorphism in the Croatian population and to compare it with reported frequencies in other populations. This polymorphism is in complete linkage disequilibrium with the UGT2B7 c.802C>T (UGT2B7*2, rs7439366) variant, which is important in clinical medicine. The study reports data of 501 participants from University Hospital Centre Zagreb. All data were collected and analysed retrospectively. Genotyping was performed by real-time polymerase chain reaction (PCR) using the TaqMan® Drug Metabolism Genotyping Assay for UGT2B7 c.-161C>T (rs7668258). We found that 120 (23.95 %) participants were carriers of the UGT2B7 c.-161CC genotype and 255 (50.9 %) were heterozygous carriers (UGT2B7 c.-161CT), while 126 (25.15 %) were homozygous carriers of the variant allele (UGT2B7 c.-161TT). The frequency of the variant UGT2B7 c.-161C>T allele in this study was T=0.506. The frequency of the UGT2B7 c.-161C>T allelic variants and genotypes in the Croatian population is similar to other European populations.

Keywords

allelic variants; genotyping; glucuronidation; pharmacogenetics; uridine diphosphate glucuronosyltransferase-2B7

Hrčak ID:

288117

URI

https://hrcak.srce.hr/288117

Publication date:

28.12.2022.

Article data in other languages: croatian

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