Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans.

摘要: As a membrane influx transporter, organic anion-transporting polypeptide 1B1 (OATP1B1) regulates the cellular uptake of number endogenous compounds and drugs. The aim this study was to characterize diversity solute carrier anion transporter family member (SLCO1B1) gene encoding in two ethnic groups populating Western Balkans. distribution SCLO1B1 alleles determined at seven variant sites (c.388A>G, c.521T>C, c.571T>C, c.597C>T, c.1086C>T, c.1463G>C c.*439T>G) 266 Macedonians 94 Albanians using TaqMan allelic discrimination assay. No significant difference frequencies single nucleotide polymorphisms (SNPs) observed between these populations. frequency c.521T>C SNP lowest ( C c.1086 C>T SNPs were not identified either group. haplotype analysis revealed 20 21 different haplotypes Macedonian Albanian population, respectively. most common both groups, *1J/*1K/*1L, had 39.0% 26.6%, In populations, functionally c.388A>G existed one major (*15/*16/*17), with 8.6 2.4% subjects, conclusion, sequence variations SLCO1B1 studied populations occur high frequencies, which are similar that Caucasian population. Further studies needed evaluate clinical significance and/ or they form for large substrates susceptibility certain diseases.