ABCG2 and SLCO1B1 gene polymorphisms in the Croatian population

Scientific paper - Original scientific paper

• Author: Tamara Božina
• Author: Lana Ganoci
• Author: Ena Karačić
• Author: Livija Šimičević
• Author: Majda Vrkić-Kirhmajer
• Author: Iva Klarica-Domjanović
• Author: Tena Križ
• Author: Zrinka Sertić
• Author: Nada Božina
• Author's institution: University of Zagreb; School of Medicine; (Department of Pharmacology)
• Author's institution: University of Zagreb; School of Medicine; (Department of Medical Biology)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Pharmacology

Abstract (english)

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.

• Keywords (english): ATP Binding Cassette Transporter, Subfamily G, Member 2 / genetics; Alleles; Croatia; Female; Gene Frequency; Genotype; Humans; Liver-Specific Organic Anion Transporter 1 / genetics; Neoplasm Proteins / genetics; Polymorphism, Single Nucleotide; Real-Time Polymerase Chain Reaction
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Annals of Human Biology
• Numbering: vol. 49, no. 7-8, pp. 323-331
• p-ISSN: 0301-4460
• e-ISSN: 1464-5033
• DOI: https://doi.org/10.1080/03014460.2022.2140826
• URN:NBN: urn:nbn:hr:105:438197
• Publication: 2022-12-09
• Document URL: https://www.tandfonline.com/doi/full/10.1080/03014460.2022.2140826
• Type of resource: Text
• Access conditions: Open access
• Created on: 2023-07-12 10:50:35