Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa
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 increasi...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2014-04-01
|
| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300006&tlng=en |
| _version_ | 1798026209604403200 |
|---|---|
| author | Clifford Jacobs Brendon Pearce Mornè Du Plessis Nisreen Hoosain Mongi Benjeddou |
| author_facet | Clifford Jacobs Brendon Pearce Mornè Du Plessis Nisreen Hoosain Mongi Benjeddou |
| author_sort | Clifford Jacobs |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T18:31:37Z |
| format | Article |
| id | doaj.art-094fe898b2d340799ba8b77c366b92a2 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-04-11T18:31:37Z |
| publishDate | 2014-04-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-094fe898b2d340799ba8b77c366b92a22022-12-22T04:09:25ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852014-04-0137235035910.1590/S1415-47572014005000002Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South AfricaClifford Jacobs0Brendon Pearce1Mornè Du Plessis2Nisreen Hoosain3Mongi Benjeddou4University of the Western CapeUniversity of the Western CapeUniversity of the Western CapeUniversity of the Western CapeUniversity of the Western CapeHuman 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300006&tlng=enpolymorphismhaplotypepopulation genetic structuregenotypinggenetic variability |
| spellingShingle | Clifford Jacobs Brendon Pearce Mornè Du Plessis Nisreen Hoosain Mongi Benjeddou Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa Genetics and Molecular Biology polymorphism haplotype population genetic structure genotyping genetic variability |
| title | Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa |
| title_full | Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa |
| title_fullStr | Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa |
| title_full_unstemmed | Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa |
| title_short | Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa |
| title_sort | genetic polymorphisms and haplotypes of the organic cation transporter 1 gene slc22a1 in the xhosa population of south africa |
| topic | polymorphism haplotype population genetic structure genotyping genetic variability |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300006&tlng=en |
| work_keys_str_mv | AT cliffordjacobs geneticpolymorphismsandhaplotypesoftheorganiccationtransporter1geneslc22a1inthexhosapopulationofsouthafrica AT brendonpearce geneticpolymorphismsandhaplotypesoftheorganiccationtransporter1geneslc22a1inthexhosapopulationofsouthafrica AT morneduplessis geneticpolymorphismsandhaplotypesoftheorganiccationtransporter1geneslc22a1inthexhosapopulationofsouthafrica AT nisreenhoosain geneticpolymorphismsandhaplotypesoftheorganiccationtransporter1geneslc22a1inthexhosapopulationofsouthafrica AT mongibenjeddou geneticpolymorphismsandhaplotypesoftheorganiccationtransporter1geneslc22a1inthexhosapopulationofsouthafrica |