Establishment of a biobank and pharmacogenetics database of African populations

Matimba, Alice; Oluka, Margaret; Ebeshi, Benjamin U.; Sayi, Jane; Bolaji, Oluseye O.; Guantai, Anastasia Nkatha; Masimirembwa, Collen

doi:10.1038/ejhg.2008.49

Cited by 62 publications

(47 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Since few African populations have been studied so far and the documentation of pharmacogenetic information is scarce, attempts to establish biobanking initiatives and pharmacogenetic databases are underway (Matimba et al 2008;http://www.aibst.com/biobank). Such databases could be a very helpful tool in promoting drug discovery and development in the public and private sectors.…”

Section: Pharmacogeneticsmentioning

confidence: 99%

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

et al. 2008

Self Cite

View full text Add to dashboard Cite

Africa is the ultimate source of modern humans and as such harbors more genetic variation than any other continent. For this reason, studies of the patterns of genetic variation in African populations are crucial to understanding how genes affect phenotypic variation, including disease predisposition. In addition, the patterns of extant genetic variation in Africa are important for understanding how genetic variation affects infectious diseases that are a major problem in Africa, such as malaria, tuberculosis, schistosomiasis, and HIV/AIDS. Therefore, elucidating the role that genetic susceptibility to infectious diseases plays is critical to improving the health of people in Africa. It is also of note that recent and ongoing social and cultural changes in sub-Saharan Africa have increased the prevalence of non-communicable diseases that will also require genetic analyses to improve disease prevention and treatment. In this review we give special attention to many of the past and ongoing studies, emphasizing those in Sub-Saharan Africans that address the role of genetic variation in human disease.

show abstract

Section: Pharmacogeneticsmentioning

confidence: 99%

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

et al. 2008

Self Cite

View full text Add to dashboard Cite

show abstract

“…Some studies have demonstrated an association between gender and NVP plasma concentration and have suggested 0.31 a 0.08 NA Yoruba (Matimba et al, 2008) 0.42 0.12 0.57 a Tanzanians (Bains et al, 2013) 0.10 a NA 0.49 Maasai (Matimba etal., 2008) 0.37 0.01 a 0.52 Luhya (Ikediobi et al,. 2011) 0.31 0.07 N/A Ugandan (Mukonzo et al, 2009) 0.36 0.10 NA Ghanaian (Bains et al, 2013;Griese et al 1999) 0 that it could be due to differential drug biotransformation, fat content, and exogenous and endogenous hormonal expression differences in males and females (Bersoff-Matcha et al, 2001;Dong et al, 2012;Marinho et al, 2013).…”

Section: Anthropometry Data and Nvp Plasma Concentrationmentioning

confidence: 99%

“…Generally, African populations have been treated as genetically homogenous. For a long time the Yoruba have been used as a proxy, however, there is now evidence of noticeable genetic diversity and differences across African populations (Matimba et al, 2008;Skelton et al, 2014).…”

Section: Genotype and Allele Frequenciesmentioning

confidence: 99%

Effects ofCYP2B6andCYP1A2Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients

Mhandire

Lacerda

Castel

et al. 2015

OMICS: A Journal of Integrative Biology

View full text Add to dashboard Cite

The extremely high prevalence of HIV/AIDS in sub-Saharan Africa and limitations of current antiretroviral medicines demand new tools to optimize therapy such as pharmacogenomics for person-toperson variations. African populations exhibit greater genetic diversity than other world populations, thus making it difficult to extrapolate findings from one population to another. Nevirapine, an antiretroviral medicine, displays large plasma concentration variability which adversely impacts therapeutic virological response. This study, therefore, aimed to identify sources of variability in nevirapine pharmacokinetics and pharmacodynamics, focusing on genetic variation in CYP2B6 and CYP1A2. Using a cross-sectional study design, 118 HIV-infected adult Zimbabwean patients on nevirapine-containing highly active antiretroviral therapy (HAART) were characterized for three key functional single nucleotide polymorphisms (SNPs), CYP2B6 c.516G>T (rs3745274), CYP2B6 c.983T>C (rs28399499), and CYP1A2 g.-163C>A (rs762551). We investigated whether genotypes at these loci were associated with nevirapine plasma concentration, a therapeutic biomarker, and CD4 cell count, a biomarker of disease progression. CYP2B6 and CYP1A2 were chosen as the candidate genes based on reports in literature, as well as their prominence in the metabolism of efavirenz, a drug in the same class with nevirapine. Nevirapine plasma concentration was determined using LC-MS/MS. The mean nevirapine concentration for CYP2B6 c.516T/T genotype differed significantly from that of 516G/G ( p < 0.001) and 516G/T ( p < 0.01) genotypes, respectively. There were also significant differences in mean nevirapine concentration between CYP2B6 c.983T > C genotypes ( p = 0.04). Importantly, the CYP1A2 g.-163C>A SNP was significantly associated with the pharmacodynamics endpoint, the CD4 cell count ( p = 0.012). Variant allele frequencies for the three SNPs observed in this Zimbabwean group were similar to other African population groups but different to observations among Caucasian and Asian populations. We conclude that CYP2B6 c.516G>T and CYP2B6 c.983T>C could be important sources of nevirapine pharmacokinetic variability that could be considered for dosage optimization, while CYP1A2 g.-163C>A seems to be associated with HIV disease progression. These inter-and intra-population pharmacokinetic and pharmacodynamics differences suggest that a single prescribed dosage may not be appropriate for the treatment of disease. Further research into a personalized nevirapine regimen is required.

show abstract

“…24 Other major biobanking projects initiated in Kenya in 2003 aimed to get several countries to participate in the establishment of a pharmacogenetic database; these projects focused on the polymorphism, in various ethnic populations. 25 The authors were interested in malaria, human immunodeficiency virus, and other infectious diseases and recognized that future use of the pharmacogenetic biobank would require improvements in ethical aspects and sample anonymization.…”

Section: Discussionmentioning

confidence: 99%

Biobank–Short Message Service for Linking Patients and Samples

Tebbakha

2013

Telemedicine and e-Health

View full text Add to dashboard Cite

A biobank is a biorepository that stores biological samples (usually of human origin) for use in research. Since the late 1990s, biobanks have become a key resource, supporting contemporary research in many fields, including genomics and personalized medicine. The ethical requirement for anonymity currently results in irreversible severing of the link between patients and their biobank samples. However, the maintenance of an anonymous link would increase patients' control over their samples and the efficacy of sample management. We propose a system for anonymous, real-time communication between the biobank and the patients providing samples based on the short message service (SMS) of mobile telephones. The patient and the biobank communicate via a cryptographic protocol, using a trusted third-party server. The biobank-SMS (BioK-SMS) communication system provides answers to certain persistent ethical questions relating to biobanking. BioK-SMS makes it easier to obtain renewed consent when required, gives patients more control over their samples, and protects their privacy.

show abstract

Establishment of a biobank and pharmacogenetics database of African populations

Cited by 62 publications

References 22 publications

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

Effects ofCYP2B6andCYP1A2Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients

Biobank–Short Message Service for Linking Patients and Samples

Contact Info

Product

Resources

About