Genetic polymorphisms and haplotypes of the human organic cation transporter 2 gene in the Zulu population

Background: Organic Cation Transporters (OCTs) play a vital role in renal elimination of various organic cations. Numerous studies have suggested that variations in non-synonymous single nucleotide polymorphisms (SNPs) of OCT2 could influence an individual's response to various treatments, including clinically important drugs. Objective: To determine the genotypic and minor allele frequencies for OCT2 as well as to infer the haplotype structure from the genotypic data. Design: This study is the first to determine the baseline frequency distribution for twenty SNPs of OCT2 in the Zulu population. DNA was collected from 101 unrelated "healthy" Zulu participants. Genotypes of all samples were determined using a multiplex PCR and SNaPshot assay followed by the generation of the haplotype structure. This is the first time that the baseline frequency distribution of SNPs is reported for the Zulu population. Results: Of the twenty SNPs studied, variation was only detected in four SNPs while the other 16 SNPs were monomorphic. Conclusions: Data from this study could be used in in vitro and in vivo pharmacogenetic and pharmacokinetic studies to evaluate the potential role the studied SNPs play in the therapeutic efficacy of clinically important drugs. Acknowledgements: We would like to thank the Medical Research Council (MRC) – South Africa, the National Research Foundation (NRF) – South Africa for financial support. Special appreciation is extended to the study participants.