Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa

Simple item page
dc.contributor.authorJacobs, Clifford
dc.contributor.authorPearce, Brendon
dc.contributor.authorDu Plessis, Mornè
dc.date.accessioned2023-02-10T07:17:41Z
dc.date.available2023-02-10T07:17:41Z
dc.date.issued2014
dc.description.abstractHuman 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.en_US
dc.identifier.citationJacobs, 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/S1415-47572014005000002en_US
dc.identifier.issn0100-8455
dc.identifier.urihttp://hdl.handle.net/10566/8402
dc.language.isoenen_US
dc.publisherBrazilian Society of Geneticsen_US
dc.subjectBiotechnologyen_US
dc.subjectPolymorphismen_US
dc.subjectHaplotypeen_US
dc.subjectRaceen_US
dc.subjectXhosaen_US
dc.subjectSouth Africaen_US
dc.titleGenetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africaen_US
dc.typeArticleen_US

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
jacobs_genetic polymorphisms and haplotypes of the organic cation_2014.pdf
Size:
462.91 KB
Format:
Adobe Portable Document Format
Description:
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Research Articles (Biotechnology)