Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1-MRP1) in the Polish population.

摘要: Multidrug resistance-associated protein 1 (MRP1), encoded by the ABCC1 gene, is an ATP-binding cassette transporter mediating efflux of organic anions and xenobiotics; its overexpression leads to multidrug resistance. In this study, 30 exons (from 31 in total) gene as well their flanking intron sequences were screened for genetic variation, using High Resolution Melting (HRM) method, 190 healthy volunteers representing Polish population. Polymorphism screening indispensable step personalized patient therapy. An additional targeted SNP verification study ten variants was performed verify sensitivity scanning method. During scanning, 46 polymorphisms, including seven novel ones, found: one 3’ UTR, 21 (11 them non-synonymous) 24 introns, deletion variant. These results revealed some ethnic differences frequency several polymorphisms when compared literature data other populations. Based on linkage disequilibrium analysis, 4 haplotype blocks determined 9 detected 12 haplotypes defined. To capture common haplotypes, haplotype-tagging single nucleotide identified. Targeted genotyping correlated with results; thus, HRM a suitable method variation model. efficient sensitive polymorphic variants. Ethnic found population others. Thus, may be useful pharmacogenetics drugs affected MRP1-mediated efflux.