Lack of genomic diversity in the SLC47A1 gene within the indigenous Xhosa population.

Background: Multidrug and toxin extrusion 1 (MATE1) is an organic cation/H+ exchanger, localized in the apical membrane of proximal renal tubules, which mediates the cellular elimination of organic cations into the renal lumen. These organic cations include clinically important drugs such as metformin, oxaliplatin and cimetidine. Moreover, genetic polymorphisms of SLC47A1, the pharmacogenetically relevant gene encoding human MATE1, have been implicated in reduced transport or accumulation to cytotoxic levels of these drugs in vitro. However, little or no information is available on the minor allele frequency distribution of known SLC47A1 coding SNPs in the sub-Saharan African populations.

Methods: Thus, the aim of this study was to determine the baseline minor allele frequency distribution of 20 known coding SNPs in the SLC47A1 gene of 148 Xhosa individuals residing in Cape Town, South Africa.

Results: This study did not identify any of these known SLC47A1 coding SNPs in the Xhosa individuals who participated in this study.

Conclusions: It is anticipated that whole genome or exome sequencing may reveal novel SNPs in the Xhosa and other sub-Saharan African populations, which may have been missed with the current genotyping strategy.