1. Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
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Pfeffer, DA, Satyagraha, AW, Sadhewa, A, Alam, MS, Bancone, G, Boum, Y, Brito, M, Cui, L, Deng, Z, Domingo, GJ, He, Y, Khan, WA, Kibria, MG, Lacerda, M, Menard, D, Monteiro, W, Pal, S, Parikh, S, Roca-Feltrer, A, Roh, M, Sirdah, MM, Wang, D, Huang, Q, Howes, RE, Price, RN, Ley, B, Charles Darwin University [Australia], Eijkman Institute for Molecular Biology [Jakarta], International Centre for Diarrhoeal Disease Research, Bangladesh (ICDDR,B), Mahidol University [Bangkok], University of Oxford, Mbarara University of Science and Technology [Mbarara] (MUST), Fundação de Medicina Tropical Dr Heitor Vieira Dourado [Manaus, Brazil], University of South Florida [Tampa] (USF), Kunming Medical University (KMU), Génétique du paludisme et résistance - Malaria Genetics and Resistance, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Dynamique des interactions hôte pathogène (DIHP), Université de Strasbourg (UNISTRA), Yale School of Public Health (YSPH), University of California [San Francisco] (UC San Francisco), University of California (UC), Xiamen University, Foundation for Innovative New Diagnostics (FIND), and A.W.S. and A.S. were funded by the Ministry of Research and Technology/National Research and Innovation Agency of the Republic of Indonesia. GB and SMRU are supported by the Wellcome Trust [grant 220111]. GJD and PATH studies were funded by the United Kingdom’s Foreign, Commonwealth & Development Office (FCDO), grant number 204139 and, by the Bill & Melinda Gates Foundation [OPP1107113]. This research was funded by Wellcome Trust Senior Fellow in Clinical Science (200909 RNP) and by the Bill & Melinda Gates Foundation [SEPRA-INV-024389]. For the purpose of Open Access, the authors have applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission.
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Microbiology (medical) ,G6PD genotype ,G6PD activity ,Infectious Diseases ,General Immunology and Microbiology ,[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases ,G6PD deficiency ,glucose-6-phosphate dehydrogenase ,Immunology and Allergy ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,[SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology ,Molecular Biology - Abstract
Low glucose-6-phosphate dehydrogenase enzyme (G6PD) activity is a key determinant of drug-induced haemolysis. More than 230 clinically relevant genetic variants have been described. We investigated the variation in G6PD activity within and between different genetic variants. In this systematic review, individual patient data from studies reporting G6PD activity measured by spectrophotometry and corresponding the G6PD genotype were pooled (PROSPERO: CRD42020207448). G6PD activity was converted into percent normal activity applying study-specific definitions of 100%. In total, 4320 individuals from 17 studies across 10 countries were included, where 1738 (40.2%) had one of the 24 confirmed G6PD mutations, and 61 observations (3.5%) were identified as outliers. The median activity of the hemi-/homozygotes with A-(c.202G>A/c.376A>G) was 29.0% (range: 1.7% to 76.6%), 10.2% (range: 0.0% to 32.5%) for Mahidol, 16.9% (range 3.3% to 21.3%) for Mediterranean, 9.0% (range: 2.9% to 23.2%) for Vanua Lava, and 7.5% (range: 0.0% to 18.3%) for Viangchan. The median activity in heterozygotes was 72.1% (range: 16.4% to 127.1%) for A-(c.202G>A/c.376A>G), 54.5% (range: 0.0% to 112.8%) for Mahidol, 37.9% (range: 20.7% to 80.5%) for Mediterranean, 53.8% (range: 10.9% to 82.5%) for Vanua Lava, and 52.3% (range: 4.8% to 78.6%) for Viangchan. A total of 99.5% of hemi/homozygotes with the Mahidol mutation and 100% of those with the Mediterranean, Vanua Lava, and Viangchan mutations had A/c.376A>G), 55% of hemi/homozygotes had
- Published
- 2022
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