title: Frequency of the C1236T, G2677T/A and C3435T MDR1 gene polymorphisms in the Serbian population.
abstract: The multi-drug resistance 1 (MDR1) gene encodes for a P-glycoprotein (PGP), which acts as a gate-keeper against various kinds of xenobiotics. Several single nucleotide polymorphisms (SNPs) in the MDR1 gene that may influence PGP level and function have been identified. The aim of this study was to simultaneously analyze the three most important MDR1 SNPs, C3435T, G2677T/A and C1236T, in the Serbian population and to compare the results with those published for other ethnic groups. A group of 158 unrelated, healthy subjects was included in the present study. For determination of MDR1 SNPs, a multiplexed mutagenically separated PCR was performed. The genotype frequency of the analyzed MDR1 SNPs was as follows: 3435 nt - 0.19 (CC), 0.54 (CT) and 0.27 (TT); 2677 nt - 0.26 (GG), 0.52 (GT), 0.15 (TT), 0.03 (GA) and 0.064 (TA), and 1236 nt - 0.23 (CC), 0.61 (CT) and 0.16 (TT). Our results for the Serbian population could be relevant for further investigation of drugs that are substrates of PGPand for studies of interethnic diversity in MDR1 polymorphism frequency.
authors.affiliation: Institute of Pathophysiology, University School of Medicine Zorana Djindjica 81, 18000 Nis, Serbia. maja@medfak.ni.ac.rs
authors.forename: Maja
authors.initials: M
authors.lastname: Milojkovic
authors.forename: Slavica
authors.initials: S
authors.lastname: Stojnev
authors.forename: Ivan
authors.initials: I
authors.lastname: Jovanovic
authors.forename: Srdjan
authors.initials: S
authors.lastname: Ljubisavljevic
authors.forename: Vladisav
authors.initials: V
authors.lastname: Stefanovic
authors.forename: Raute
authors.initials: R
authors.lastname: Sunder-Plassman
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D055771:Serbia; D055815:Young Adult
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1