title: Influence of ethnicity on pharmacogenetic variation in the Ghanaian population.
abstract: It has been well established that the frequencies of genomic variants can vary greatly between the populations of different countries. We sought to quantify the intra-population variability in Ghana to determine the value of genotyping studies done at a nationwide level. Further, we investigated the differences between the Ghanaian and other African populations to determine the quality of genomic representation provided by a small subgroup within the continent with regard to the general population. We genotyped 934 unrelated Ghanaian individuals for 15 single nucleotide polymorphisms (SNPs) from genes defined as clinically relevant based on their reported roles in the transport of, metabolism of, or as targets of the medicines listed in the World Health Organization Essential Medicines list. Populations within Ghana and between nations in Western Africa were genetically cohesive. In contrast, populations in other areas of Africa were genetically divergent. Gene allele frequency also differed significantly between the populations in African nations and the United States for several of the SNPs. These results demonstrate that national populations in similar geographic regions, like Africa, may have widely varying genetic allele frequencies for clinically relevant SNPs. Further genotyping studies of specific populations are necessary to provide the best medical care to all individuals.
authors: UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill, NC, USA.
authors: J L
authors: JL
authors: Yen-Revollo
authors: D J
authors: DJ
authors: Van Booven
authors: E J
authors: EJ
authors: Peters
authors: J M
authors: JM
authors: Hoskins
authors: R M
authors: RM
authors: Engen
authors: H D
authors: HD
authors: Kannall
authors: D
authors: D
authors: Ofori-Adjei
authors: H L
authors: HL
authors: McLeod
authors: S
authors: S
authors: Marsh
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics; D044383:Black People / Q000235:genetics*; D051544:Cytochrome P-450 CYP3A / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005869:Ghana; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D014481:United States; D044465:White People / Q000235:genetics; D001741:Black or African American
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D051544:Cytochrome P-450 CYP3A; C510163:CYP3A4 protein, human