Publications

@article{Twesigomwe2024,

title = {Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub-Saharan African Populations},

author = {David Twesigomwe and Britt I. Dr\"{o}gem\"{o}ller and Galen E. B. Wright and Clement Adebamowo and Godfred Agongo and Palwend\'{e} R. Boua and Mogomotsi Matshaba and Maria Paximadis and Mich\`{e}le Ramsay and Gustave Simo and Martin C. Simuunza and Caroline T. Tiemessen and Zan\'{e} Lombard and Scott Hazelhurst},

url = {https://pubmed.ncbi.nlm.nih.gov/38049200/},

doi = {10.1002/CPT.3124},

issn = {1532-6535},

year  = {2024},

date = {2024-01-01},

journal = {Clinical pharmacology and therapeutics},

volume = {115},

issue = {3},

pages = {576-594},

publisher = {Clin Pharmacol Ther},

abstract = {Genetic variation in CYP2B6 and CYP2A6 is known to impact interindividual response to antiretrovirals, nicotine, and bupropion, among other drugs. However, the full catalogue of clinically relevant pharmacogenetic variants in these genes is yet to be established, especially across African populations. This study therefore aimed to characterize the star allele (haplotype) distribution in CYP2B6 and CYP2A6 across diverse and understudied sub-Saharan African (SSA) populations. We called star alleles from 961 high-depth full genomes using StellarPGx, Aldy, and PyPGx. In addition, we performed CYP2B6 and CYP2A6 star allele frequency comparisons between SSA and other global biogeographical groups represented in the new 1000 Genomes Project high-coverage dataset (n = 2,000). This study presents frequency information for star alleles in CYP2B6 (e.g., *6 and *18; frequency of 21\textendash47% and 2\textendash19%, respectively) and CYP2A6 (e.g., *4, *9, and *17; frequency of 0\textendash6%, 3\textendash10%, and 6\textendash20%, respectively), and predicted phenotypes (for CYP2B6), across various African populations. In addition, 50 potentially novel African-ancestry star alleles were computationally predicted by StellarPGx in CYP2B6 and CYP2A6 combined. For each of these genes, over 4% of the study participants had predicted novel star alleles. Three novel star alleles in CYP2A6 (*54, *55, and *56) and CYP2B6 apiece, and several suballeles were further validated via targeted Single-Molecule Real-Time resequencing. Our findings are important for informing the design of comprehensive pharmacogenetic testing platforms, and are highly relevant for personalized medicine strategies, especially relating to antiretroviral medication and smoking cessation treatment in Africa and the African diaspora. More broadly, this study highlights the importance of sampling diverse African ethnolinguistic groups for accurate characterization of the pharmacogene variation landscape across the continent.},

keywords = {Africa South of the Sahara, Alleles, Britt I Dr\"{o}gem\"{o}ller, Cytochrome P-450 CYP2A6 / genetics, Cytochrome P-450 CYP2B6 / genetics, David Twesigomwe, doi:10.1002/cpt.3124, Gene Frequency, Genotype, Humans, MEDLINE, National Center for Biotechnology Information, National Institutes of Health, National Library of Medicine, NCBI, Nicotine*, NIH, NLM, Non-U.S. Gov't, Pharmacogenetics*, pmid:38049200, PubMed Abstract, Research Support, Scott Hazelhurst},

pubstate = {published},

tppubtype = {article}

}

@article{Ouoba2021-ug,

title = {Epidemiologic profile of hepatitis C virus infection and  genotype distribution in Burkina Faso: a systematic review with  meta-analysis},

author = {Serge Ouoba and Jean Claude Romaric Pingdwinde Ouedraogo and Moussa Lingani and Bunthen E and Md Razeen Ashraf Hussain and Ko Ko and Shintaro Nagashima and Aya Sugiyama and Tomoyuki Akita and Halidou Tinto and Junko Tanaka},

doi = {10.1186/s12879-021-06817-x},

issn = {1471-2334},

year  = {2021},

date = {2021-11-01},

urldate = {2021-11-01},

journal = {BMC Infect. Dis.},

volume = {21},

number = {1},

pages = {1126},

publisher = {Springer Science and Business Media LLC},

abstract = {BACKGROUND: Detailed characteristics of Hepatitis C virus (HCV) 

 infection in Burkina Faso are scarce. The main aim of this study 

 was to assess HCV seroprevalence in various settings and 

 populations at risk in Burkina Faso between 1990 and 2020. 

 Secondary objectives included the prevalence of HCV Ribonucleic 

 acid (RNA) and the distribution of HCV genotypes. METHODS: A 

 systematic database search, supplemented by a manual search, was 

 conducted in PubMed, Web of Science, Scopus, and African Index 

 Medicus. Studies reporting HCV seroprevalence data in low and 

 high-risk populations in Burkina Faso were included, and a 

 random-effects meta-analysis was applied. Risk of bias was 

 assessed using the Joanna Briggs institute checklist. RESULTS: 

 Low-risk populations were examined in 31 studies involving a 

 total of 168,151 subjects, of whom 8330 were positive for HCV 

 antibodies. Six studies included a total of 1484 high-risk 

 persons, and 96 had antibodies to HCV. The pooled seroprevalence 

 in low-risk populations was 3.72% (95% CI: 3.20-4.28) and 

 4.75% (95% CI: 1.79-8.94) in high-risk groups. A 

 non-significant decreasing trend was observed over the study 

 period. Seven studies tested HCV RNA in a total of 4759 

 individuals at low risk for HCV infection, and 81 were positive. 

 The meta-analysis of HCV RNA yielded a pooled prevalence of 

 1.65% (95% CI: 0.74-2.89%) in low-risk populations, which is 

 assumed to be indicative of HCV prevalence in the general 

 population of Burkina Faso and suggests that about 301,174 

 people are active HCV carriers in the country. Genotypes 2 and 1 

 were the most frequent, with 60.3% and 25.0%, respectively. 

 CONCLUSIONS: HCV seroprevalence is intermediate in Burkina Faso 

 and indicates the need to implement effective control 

 strategies. There is a paucity of data at the national level and 

 for rural and high-risk populations. General population 

 screening and linkage to care are recommended, with special 

 attention to rural and high-risk populations.},

note = {© 2021. The Author(s).

PMID: 34724902 

PMCID: PMC8561994},

keywords = {Burkina Faso, Burkina Faso/epidemiology, Genotype, Hepacivirus/genetics, Hepatitis C, Hepatitis C/epidemiology, Humans, Prevalence, Seroepidemiologic Studies, Seroprevalence, Systematic review},

pubstate = {published},

tppubtype = {article}

}

@article{Sondo2021-qe,

title = {Polymorphisms in Plasmodium falciparum parasites and mutations in the resistance genes Pfcrt and Pfmdr1 in Nanoro area, Burkina Faso.},

author = {Paul Sondo and Biebo Bihoun and B\'{e}renger Kabore and Marc Christian Tahita and Karim Derra and Toussaint Rouamba and Seydou Nakanabo Diallo and Adama Kazienga and Hamidou Ilboudo and Innocent Valea and Zekiba Tarnagda and Hermann Sorgho and Thierry Lefevre and Halidou Tinto},

doi = {10.11604/pamj.2021.39.118.26959},

issn = {1937-8688},

year  = {2021},

date = {2021-06-10},

urldate = {2021-06-10},

journal = {Pan Afr. Med. J.},

volume = {39},

pages = {118},

publisher = {Pan African Medical Journal},

abstract = {Introduction: from a genetic point of view P. falciparumis 

 extremely polymorphic. There is a variety of parasite strains 

 infesting individuals living in malaria endemic areas. The 

 purpose of this study is to investigate the relationship between 

 polymorphisms in Plasmodium falciparum parasites and Pfcrt and 

 Pfmdr1 gene mutations in Nanoro area, Burkina Faso. Methods: 

 blood samples from plasmodium carriers residing in the Nanoro 

 Health District were genotyped using nested PCR. Parasite gene 

 mutations associated with resistance to antimalarial drugs were 

 detected by PCR-RFLP. Results: samples of 672 patients were 

 successfully genotyped. No msp1and msp2allelic families 

 exhibited an increase in developing mutations in resistance 

 genes. However, mutant strains of these genes were present at 

 greater levels in monoclonal infections than in multi-clonal 

 infections. Conclusion: this study provides an overview of the 

 relationship between polymorphisms in Plasmodium falciparum 

 parasites and mutations in resistance genes. These data will 

 undoubtedly contribute to improving knowledge of the parasite´s 

 biology and its mechanisms of resistance to antimalarial drugs.},

note = {Copyright: Paul Sondo et al.

PMID: 34512854 

PMCID: PMC8396377},

keywords = {Antimalarials/pharmacology, Burkina Faso, Drug Resistance, Falciparum/drug therapy/parasitology, GeneticRestriction Fragment Length, Genotype, Humans, Malaria, Membrane Transport Proteins/genetics, msp1, msp2, Multidrug Resistance-Associated Proteins/genetics, Mutation, Pfcrt, Pfmdr1, Plasmodium falciparum, Plasmodium falciparum/drug effects/genetics/isolation \& purification, Polymerase Chain Reaction, Polymorphism, Protozoan Proteins/genetics},

pubstate = {published},

tppubtype = {article}

}