Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa
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Date
2014
Journal Title
Journal ISSN
Volume Title
Publisher
Brazilian Society of Genetics
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.
Description
Keywords
Biotechnology, Polymorphism, Haplotype, Race, Xhosa, South Africa
Citation
Jacobs, C. et al. (2014). Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa, Genetics and Molecular Biology, 37(2), 350-359. https://doi.org/10.1590/S1415-47572014005000002