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Frequencies of Single Nucleotide Polymorphisms in Cytochrome P450 Genes in a Rwandan Population: Difference to Other African Populations

Journal article
Authors Emile Bienvenu
Swart Marelize
Dandara Collet
Wonkam Ambroise
Agneta Ekman
Angela Abelö
Michael Ashton
Published in Current Pharmacogenomics and Personalized Medicine
Volume 11
Issue 3
Pages 237-246
ISSN 1875-6921
Publication year 2013
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 237-246
Language en
Keywords Africa, Allele, Cytochrome P450, Genomics and africa, Global personalized medicine, Pharmacogenetics, Population, Rwanda, Single nucleotide polymorphisms
Subject categories Pharmacy


The cytochrome P450 (CYP450) enzymes play a key role for interindividual variability in drug response. No comprehensive pharmacogenetic data are yet available for the Rwandan population in regards to single nucleotide polymorphisms in CYP450s of major importance for personalized medicine. This study investigated the genotype and allele frequencies with respect to relevant SNPs for CYP1A2, CYP2A6, CYP2B6, CYP3A4 and CYP3A5 genes in Rwandan subjects (n=80). Results were compared with data from South African and Cameroonian populations using Pearson's χ2 and Fisher's Exact statistical tests. Genetic variation was observed in 11 out of the 13 SNPs in the above CYP450 genes. There were significant differences in the distribution of the allelic variants when the Rwandan sample was compared to the Cameroonian and the South African groups, with respect to CYP2A6 1093G>A SNP (P=0.0033 and 0.019, respectively) and CYP3A4 -392A>G SNP (P=0.0001 and 0.0084, respectively). The distribution of the CYP1A2-163C>A SNP differed between the Rwandans and the South Africans (P=0.0001), and CYP3A5 6986A>G SNP between the Rwandan and the Cameroonian subjects (P=0.017). The polymorphisms CYP2B6 516G>T and 785A>G did not show significant differences (P>0.05) between the Rwandans, Cameroonians and South Africans in the distribution of the 516T and the 785G variants. This is the first study evaluating the allele and genotype frequencies of these key CYP450 genes in Rwandan subjects. The results demonstrate the need to further characterize individual African populations with respect to genetic variations in order for personalized medicine to be realized among Africans. These data will also help illuminate the future planning of pharmacodynamic studies aimed at associations of these pharmacogenetic variants with drug safety and efficacy in Rwanda. © 2013 Bentham Science Publishers.

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