Disease burden and the role of pharmacogenomics in African populations

Abstract

Background: The burden of communicable and non-communicable diseases in Sub-Saharan Africa poses a challenge in achieving quality healthcare. Although therapeutic drugs have generally improved health, their efficacy differs from individual to individual. Variability in treatment response is mainly because of genetic variants that affect the pharmacokinetics and pharmacodynamics of drugs.

Method: The intersection of disease burden and therapeutic intervention is reviewed, and the status of pharmacogenomics knowledge in African populations is explored.

Results: The most commonly studied variants with pharmacogenomics relevance are discussed, especially in genes coding for enzymes that affect the response to drugs used for HIV, malaria, sickle cell disease and cardiovascular diseases.

Conclusions: The genetically diverse African population is likely to benefit from a pharmacogenomics-based healthcare approach, especially with respect to reduction of drug side effects, and separation of responders and non-responders leading to optimized drug choices and doses for each patient.

Keywords: Disease burden; drug metabolizing enzymes; genetic variation; pharmacogenetics; pharmacogenomics; sub-Saharan Africa.

Fig. 1.

Distribution of PCSK9 rs505151 allele frequencies in selected world populations. The PCSK9 rs505151(G) variant, depicted in red, is a gain-of-function mutation that is also associated with increased risk for coronary artery disease. The rs505151(A) variant is depicted in blue. Data from studies in African, Asian and other world populations were obtained from 1000 Genomes Project (http://www.1000genomes.org/) and HapMap (http://hapmap.ncbi.nlm.nih.gov/). Reviewed populations included: LWK, Luhya in Webuye, Kenya; YRI, Yoruba from Ibdan, Nigeria; CHB, Han Chinese in Beijing, China; JPY, Japanese; CEU, Utah residents with Northern and Western European ancestry; MXL, Mexican Ancestry in Los Angeles, California.