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Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis

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 revie...

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Autores principales: Pfeffer, Daniel A., Satyagraha, Ari Winasti, Sadhewa, Arkasha, Alam, Mohammad Shafiul, Bancone, Germana, Boum, Yap, Brito, Marcelo, Cui, Liwang, Deng, Zeshuai, Domingo, Gonzalo J., He, Yongshu, Khan, Wasif A., Kibria, Mohammad Golam, Lacerda, Marcus, Menard, Didier, Monteiro, Wuelton, Pal, Sampa, Parikh, Sunil, Roca-Feltrer, Arantxa, Roh, Michelle, Sirdah, Mahmoud M., Wang, Duoquan, Huang, Qiuying, Howes, Rosalind E., Price, Ric N., Ley, Benedikt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502867/
https://www.ncbi.nlm.nih.gov/pubmed/36145477
http://dx.doi.org/10.3390/pathogens11091045
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author Pfeffer, Daniel A.
Satyagraha, Ari Winasti
Sadhewa, Arkasha
Alam, Mohammad Shafiul
Bancone, Germana
Boum, Yap
Brito, Marcelo
Cui, Liwang
Deng, Zeshuai
Domingo, Gonzalo J.
He, Yongshu
Khan, Wasif A.
Kibria, Mohammad Golam
Lacerda, Marcus
Menard, Didier
Monteiro, Wuelton
Pal, Sampa
Parikh, Sunil
Roca-Feltrer, Arantxa
Roh, Michelle
Sirdah, Mahmoud M.
Wang, Duoquan
Huang, Qiuying
Howes, Rosalind E.
Price, Ric N.
Ley, Benedikt
author_facet Pfeffer, Daniel A.
Satyagraha, Ari Winasti
Sadhewa, Arkasha
Alam, Mohammad Shafiul
Bancone, Germana
Boum, Yap
Brito, Marcelo
Cui, Liwang
Deng, Zeshuai
Domingo, Gonzalo J.
He, Yongshu
Khan, Wasif A.
Kibria, Mohammad Golam
Lacerda, Marcus
Menard, Didier
Monteiro, Wuelton
Pal, Sampa
Parikh, Sunil
Roca-Feltrer, Arantxa
Roh, Michelle
Sirdah, Mahmoud M.
Wang, Duoquan
Huang, Qiuying
Howes, Rosalind E.
Price, Ric N.
Ley, Benedikt
author_sort Pfeffer, Daniel A.
collection PubMed
description 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 <30% activity. For A-(c.202G>A/c.376A>G), 55% of hemi/homozygotes had <30% activity. The G6PD activity for each variant spanned the current classification thresholds used to define clinically relevant categories of enzymatic deficiency.
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spelling pubmed-95028672022-09-24 Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis Pfeffer, Daniel A. Satyagraha, Ari Winasti Sadhewa, Arkasha Alam, Mohammad Shafiul Bancone, Germana Boum, Yap Brito, Marcelo Cui, Liwang Deng, Zeshuai Domingo, Gonzalo J. He, Yongshu Khan, Wasif A. Kibria, Mohammad Golam Lacerda, Marcus Menard, Didier Monteiro, Wuelton Pal, Sampa Parikh, Sunil Roca-Feltrer, Arantxa Roh, Michelle Sirdah, Mahmoud M. Wang, Duoquan Huang, Qiuying Howes, Rosalind E. Price, Ric N. Ley, Benedikt Pathogens Systematic Review 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 <30% activity. For A-(c.202G>A/c.376A>G), 55% of hemi/homozygotes had <30% activity. The G6PD activity for each variant spanned the current classification thresholds used to define clinically relevant categories of enzymatic deficiency. MDPI 2022-09-14 /pmc/articles/PMC9502867/ /pubmed/36145477 http://dx.doi.org/10.3390/pathogens11091045 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Systematic Review
Pfeffer, Daniel A.
Satyagraha, Ari Winasti
Sadhewa, Arkasha
Alam, Mohammad Shafiul
Bancone, Germana
Boum, Yap
Brito, Marcelo
Cui, Liwang
Deng, Zeshuai
Domingo, Gonzalo J.
He, Yongshu
Khan, Wasif A.
Kibria, Mohammad Golam
Lacerda, Marcus
Menard, Didier
Monteiro, Wuelton
Pal, Sampa
Parikh, Sunil
Roca-Feltrer, Arantxa
Roh, Michelle
Sirdah, Mahmoud M.
Wang, Duoquan
Huang, Qiuying
Howes, Rosalind E.
Price, Ric N.
Ley, Benedikt
Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
title Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
title_full Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
title_fullStr Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
title_full_unstemmed Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
title_short Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
title_sort genetic variants of glucose-6-phosphate dehydrogenase and their associated enzyme activity: a systematic review and meta-analysis
topic Systematic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502867/
https://www.ncbi.nlm.nih.gov/pubmed/36145477
http://dx.doi.org/10.3390/pathogens11091045
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