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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., (© 2022 Tamara Božina, Ena Karačić, Lana Ganoci, Silvija Čuković-Čavka, Jozefina Palić, Nada Božina, and Livija Šimičević, published by Sciendo.)

Background: Organic anion-transporting polypeptide 1B1 (OATP1B1) and the ATP-binding cassette subfamily G member 2, ABCG2, are important transporters involved in the transport of endogenous substrates and xenobiotics, including drugs. Genetic polymorphisms of these transporters have effect on transporter activity. There is significant interethnic variability in the frequency of allele variants., Aim: To determined allele and genotype frequencies of ABCG2 and SLCO1B1 genes in Croatian populations of European descent., Subjects and Methods: A total of 905 subjects (482 women) were included. Genotyping for ABCG2 c.421C > A (rs2231142) and for SLCO1B1 c.521T > C (rs4149056), was performed by real-time polymerase chain reaction (PCR) using TaqMan ® DME Genotyping Assays., Results: For ABCG2 c.421C > A, the frequency of CC, CA and AA genotypes was 81.4%, 17.8% and 0.8% respectively. The frequency of variant ABCG2 421 A allele was 9.7%. For SLCO1B1 c.521T > C, the frequency of TT, TC and CC genotypes was 61.7%, 34.8% and 3.5% respectively. The frequency of variant SLCO1B1 521 C allele was 20.9%., Conclusion: The frequency of the ABCG2 and SLCO1B1 allelic variants and genotypes in the Croatian population is in accordance with other European populations. Pharmacogenetic analysis can serve to individualise drug therapy and minimise the risk of developing adverse drug reactions.

Our aim was to analyze the association of HSPA1B genotypes and treatment response measured by the changes of psychopathology and neurocognitive symptoms in patients with first-episode psychosis (FEP) after 18 months of treatment. A sample of 159 patients with FEP admitted at two Croatian psychiatric hospitals in the period between year 2014 and year 2017 was assessed at baseline and after 18 months of follow-up with Positive and Negative Syndrome Scale (PANSS), Calgary Depression Scale for Schizophrenia (CDSS) and a battery of neurocognitive tests. Associations of scale and test results with HSPA1B polymorphic locus rs1061581 were analyzed using the general linear model. The carriers of the AA genotype showed the highest improvement in CDSS and RAVLT A test after the 18-month follow-up. Concordantly, we found significantly higher improvement assessed with the CDSS, RAVLT A, RAVLT A 30' and positive PANSS scales in the not-GG (AA/AG) group compared with the GG group. Our study suggests that HSPA1B rs1061581variants may moderate treatment response in FEP measured with changes of psychopathology and neurocognitive test results.