title: Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa.
abstract: Human organic cation transporter 1 is primarily expressed in hepatocytes and mediates the electrogenic transport of various endogenous and exogenous compounds, including clinically important drugs. Genetic polymorphisms in the gene coding for human organic cation transporter 1, SLC22A1, are increasingly being recognized as a possible mechanism explaining the variable response to clinical drugs, which are substrates for this transporter. The genotypic and allelic distributions of 19 nonsynonymous and one intronic SLC22A1 single nucleotide polymorphisms were determined in 148 healthy Xhosa participants from South Africa, using a SNAPshot(®) multiplex assay. In addition, haplotype structure for SLC22A1 was inferred from the genotypic data. The minor allele frequencies for S14F (rs34447885), P341L (rs2282143), V519F (rs78899680), and the intronic variant rs622342 were 1.7%, 8.4%, 3.0%, and 21.6%, respectively. None of the participants carried the variant allele for R61C (rs12208357), C88R (rs55918055), S189L (rs34104736), G220V (rs36103319), P283L (rs4646277), R287G (rs4646278), G401S (rs34130495), M440I (rs35956182), or G465R (rs34059508). In addition, no variant alleles were observed for A306T (COSM164365), A413V (rs144322387), M420V (rs142448543), I421F (rs139512541), C436F (rs139512541), V501E (rs143175763), or I542V (rs137928512) in the population. Eight haplotypes were inferred from the genotypic data. This study reports important genetic data that could be useful for future pharmacogenetic studies of drug transporters in the indigenous Sub-Saharan African populations.
authors: Department of Biotechnology , University of the Western Cape , Cape Town , South Africa .
authors: Clifford
authors: C
authors: Jacobs
authors: Department of Biotechnology , University of the Western Cape , Cape Town , South Africa .
authors: Brendon
authors: B
authors: Pearce
authors: Department of Biotechnology , University of the Western Cape , Cape Town , South Africa .
authors: Mornè
authors: M
authors: Du Plessis
authors: Department of Biotechnology , University of the Western Cape , Cape Town , South Africa .
authors: Nisreen
authors: N
authors: Hoosain
authors: Department of Biotechnology , University of the Western Cape , Cape Town , South Africa .
authors: Mongi
authors: M
authors: Benjeddou
keywords: genetic variability; genotyping; haplotype; polymorphism; population genetic structure