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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Autor*in:	Daniel A. Pfeffer [verfasserIn] Ari Winasti Satyagraha [verfasserIn] Arkasha Sadhewa [verfasserIn] Mohammad Shafiul Alam [verfasserIn] Germana Bancone [verfasserIn] Yap Boum [verfasserIn] Marcelo Brito [verfasserIn] Liwang Cui [verfasserIn] Zeshuai Deng [verfasserIn] Gonzalo J. Domingo [verfasserIn] Yongshu He [verfasserIn] Wasif A. Khan [verfasserIn] Mohammad Golam Kibria [verfasserIn] Marcus Lacerda [verfasserIn] Didier Menard [verfasserIn] Wuelton Monteiro [verfasserIn] Sampa Pal [verfasserIn] Sunil Parikh [verfasserIn] Arantxa Roca-Feltrer [verfasserIn] Michelle Roh [verfasserIn] Mahmoud M. Sirdah [verfasserIn] Duoquan Wang [verfasserIn] Qiuying Huang [verfasserIn] Rosalind E. Howes [verfasserIn] Ric N. Price [verfasserIn] Benedikt Ley [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype

Übergeordnetes Werk:	In: Pathogens - MDPI AG, 2012, 11(2022), 9, p 1045
Übergeordnetes Werk:	volume:11 ; year:2022 ; number:9, p 1045

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/pathogens11091045

Katalog-ID:	DOAJ005568153

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520			\|a 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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allfields	10.3390/pathogens11091045 doi (DE-627)DOAJ005568153 (DE-599)DOAJ4ae83a4869484f829def7f6516e4d771 DE-627 ger DE-627 rakwb eng Daniel A. Pfeffer verfasserin aut Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype Medicine R Ari Winasti Satyagraha verfasserin aut Arkasha Sadhewa verfasserin aut Mohammad Shafiul Alam verfasserin aut Germana Bancone verfasserin aut Yap Boum verfasserin aut Marcelo Brito verfasserin aut Liwang Cui verfasserin aut Zeshuai Deng verfasserin aut Gonzalo J. Domingo verfasserin aut Yongshu He verfasserin aut Wasif A. Khan verfasserin aut Mohammad Golam Kibria verfasserin aut Marcus Lacerda verfasserin aut Didier Menard verfasserin aut Wuelton Monteiro verfasserin aut Sampa Pal verfasserin aut Sunil Parikh verfasserin aut Arantxa Roca-Feltrer verfasserin aut Michelle Roh verfasserin aut Mahmoud M. Sirdah verfasserin aut Duoquan Wang verfasserin aut Qiuying Huang verfasserin aut Rosalind E. Howes verfasserin aut Ric N. Price verfasserin aut Benedikt Ley verfasserin aut In Pathogens MDPI AG, 2012 11(2022), 9, p 1045 (DE-627)732627885 (DE-600)2695572-6 20760817 nnns volume:11 year:2022 number:9, p 1045 https://doi.org/10.3390/pathogens11091045 kostenfrei https://doaj.org/article/4ae83a4869484f829def7f6516e4d771 kostenfrei https://www.mdpi.com/2076-0817/11/9/1045 kostenfrei https://doaj.org/toc/2076-0817 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2022 9, p 1045
spelling	10.3390/pathogens11091045 doi (DE-627)DOAJ005568153 (DE-599)DOAJ4ae83a4869484f829def7f6516e4d771 DE-627 ger DE-627 rakwb eng Daniel A. Pfeffer verfasserin aut Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype Medicine R Ari Winasti Satyagraha verfasserin aut Arkasha Sadhewa verfasserin aut Mohammad Shafiul Alam verfasserin aut Germana Bancone verfasserin aut Yap Boum verfasserin aut Marcelo Brito verfasserin aut Liwang Cui verfasserin aut Zeshuai Deng verfasserin aut Gonzalo J. Domingo verfasserin aut Yongshu He verfasserin aut Wasif A. Khan verfasserin aut Mohammad Golam Kibria verfasserin aut Marcus Lacerda verfasserin aut Didier Menard verfasserin aut Wuelton Monteiro verfasserin aut Sampa Pal verfasserin aut Sunil Parikh verfasserin aut Arantxa Roca-Feltrer verfasserin aut Michelle Roh verfasserin aut Mahmoud M. Sirdah verfasserin aut Duoquan Wang verfasserin aut Qiuying Huang verfasserin aut Rosalind E. Howes verfasserin aut Ric N. Price verfasserin aut Benedikt Ley verfasserin aut In Pathogens MDPI AG, 2012 11(2022), 9, p 1045 (DE-627)732627885 (DE-600)2695572-6 20760817 nnns volume:11 year:2022 number:9, p 1045 https://doi.org/10.3390/pathogens11091045 kostenfrei https://doaj.org/article/4ae83a4869484f829def7f6516e4d771 kostenfrei https://www.mdpi.com/2076-0817/11/9/1045 kostenfrei https://doaj.org/toc/2076-0817 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2022 9, p 1045
allfields_unstemmed	10.3390/pathogens11091045 doi (DE-627)DOAJ005568153 (DE-599)DOAJ4ae83a4869484f829def7f6516e4d771 DE-627 ger DE-627 rakwb eng Daniel A. Pfeffer verfasserin aut Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype Medicine R Ari Winasti Satyagraha verfasserin aut Arkasha Sadhewa verfasserin aut Mohammad Shafiul Alam verfasserin aut Germana Bancone verfasserin aut Yap Boum verfasserin aut Marcelo Brito verfasserin aut Liwang Cui verfasserin aut Zeshuai Deng verfasserin aut Gonzalo J. Domingo verfasserin aut Yongshu He verfasserin aut Wasif A. Khan verfasserin aut Mohammad Golam Kibria verfasserin aut Marcus Lacerda verfasserin aut Didier Menard verfasserin aut Wuelton Monteiro verfasserin aut Sampa Pal verfasserin aut Sunil Parikh verfasserin aut Arantxa Roca-Feltrer verfasserin aut Michelle Roh verfasserin aut Mahmoud M. Sirdah verfasserin aut Duoquan Wang verfasserin aut Qiuying Huang verfasserin aut Rosalind E. Howes verfasserin aut Ric N. Price verfasserin aut Benedikt Ley verfasserin aut In Pathogens MDPI AG, 2012 11(2022), 9, p 1045 (DE-627)732627885 (DE-600)2695572-6 20760817 nnns volume:11 year:2022 number:9, p 1045 https://doi.org/10.3390/pathogens11091045 kostenfrei https://doaj.org/article/4ae83a4869484f829def7f6516e4d771 kostenfrei https://www.mdpi.com/2076-0817/11/9/1045 kostenfrei https://doaj.org/toc/2076-0817 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2022 9, p 1045
allfieldsGer	10.3390/pathogens11091045 doi (DE-627)DOAJ005568153 (DE-599)DOAJ4ae83a4869484f829def7f6516e4d771 DE-627 ger DE-627 rakwb eng Daniel A. Pfeffer verfasserin aut Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype Medicine R Ari Winasti Satyagraha verfasserin aut Arkasha Sadhewa verfasserin aut Mohammad Shafiul Alam verfasserin aut Germana Bancone verfasserin aut Yap Boum verfasserin aut Marcelo Brito verfasserin aut Liwang Cui verfasserin aut Zeshuai Deng verfasserin aut Gonzalo J. Domingo verfasserin aut Yongshu He verfasserin aut Wasif A. Khan verfasserin aut Mohammad Golam Kibria verfasserin aut Marcus Lacerda verfasserin aut Didier Menard verfasserin aut Wuelton Monteiro verfasserin aut Sampa Pal verfasserin aut Sunil Parikh verfasserin aut Arantxa Roca-Feltrer verfasserin aut Michelle Roh verfasserin aut Mahmoud M. Sirdah verfasserin aut Duoquan Wang verfasserin aut Qiuying Huang verfasserin aut Rosalind E. Howes verfasserin aut Ric N. Price verfasserin aut Benedikt Ley verfasserin aut In Pathogens MDPI AG, 2012 11(2022), 9, p 1045 (DE-627)732627885 (DE-600)2695572-6 20760817 nnns volume:11 year:2022 number:9, p 1045 https://doi.org/10.3390/pathogens11091045 kostenfrei https://doaj.org/article/4ae83a4869484f829def7f6516e4d771 kostenfrei https://www.mdpi.com/2076-0817/11/9/1045 kostenfrei https://doaj.org/toc/2076-0817 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2022 9, p 1045
allfieldsSound	10.3390/pathogens11091045 doi (DE-627)DOAJ005568153 (DE-599)DOAJ4ae83a4869484f829def7f6516e4d771 DE-627 ger DE-627 rakwb eng Daniel A. Pfeffer verfasserin aut Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype Medicine R Ari Winasti Satyagraha verfasserin aut Arkasha Sadhewa verfasserin aut Mohammad Shafiul Alam verfasserin aut Germana Bancone verfasserin aut Yap Boum verfasserin aut Marcelo Brito verfasserin aut Liwang Cui verfasserin aut Zeshuai Deng verfasserin aut Gonzalo J. Domingo verfasserin aut Yongshu He verfasserin aut Wasif A. Khan verfasserin aut Mohammad Golam Kibria verfasserin aut Marcus Lacerda verfasserin aut Didier Menard verfasserin aut Wuelton Monteiro verfasserin aut Sampa Pal verfasserin aut Sunil Parikh verfasserin aut Arantxa Roca-Feltrer verfasserin aut Michelle Roh verfasserin aut Mahmoud M. Sirdah verfasserin aut Duoquan Wang verfasserin aut Qiuying Huang verfasserin aut Rosalind E. Howes verfasserin aut Ric N. Price verfasserin aut Benedikt Ley verfasserin aut In Pathogens MDPI AG, 2012 11(2022), 9, p 1045 (DE-627)732627885 (DE-600)2695572-6 20760817 nnns volume:11 year:2022 number:9, p 1045 https://doi.org/10.3390/pathogens11091045 kostenfrei https://doaj.org/article/4ae83a4869484f829def7f6516e4d771 kostenfrei https://www.mdpi.com/2076-0817/11/9/1045 kostenfrei https://doaj.org/toc/2076-0817 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2022 9, p 1045
language	English
source	In Pathogens 11(2022), 9, p 1045 volume:11 year:2022 number:9, p 1045
sourceStr	In Pathogens 11(2022), 9, p 1045 volume:11 year:2022 number:9, p 1045
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype Medicine R
isfreeaccess_bool	true
container_title	Pathogens
authorswithroles_txt_mv	Daniel A. Pfeffer @@aut@@ Ari Winasti Satyagraha @@aut@@ Arkasha Sadhewa @@aut@@ Mohammad Shafiul Alam @@aut@@ Germana Bancone @@aut@@ Yap Boum @@aut@@ Marcelo Brito @@aut@@ Liwang Cui @@aut@@ Zeshuai Deng @@aut@@ Gonzalo J. Domingo @@aut@@ Yongshu He @@aut@@ Wasif A. Khan @@aut@@ Mohammad Golam Kibria @@aut@@ Marcus Lacerda @@aut@@ Didier Menard @@aut@@ Wuelton Monteiro @@aut@@ Sampa Pal @@aut@@ Sunil Parikh @@aut@@ Arantxa Roca-Feltrer @@aut@@ Michelle Roh @@aut@@ Mahmoud M. Sirdah @@aut@@ Duoquan Wang @@aut@@ Qiuying Huang @@aut@@ Rosalind E. Howes @@aut@@ Ric N. Price @@aut@@ Benedikt Ley @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	732627885
id	DOAJ005568153
language_de	englisch
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Pfeffer</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Low glucose-6-phosphate dehydrogenase enzyme (G6PD) activity is a key determinant of drug-induced haemolysis. 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author	Daniel A. Pfeffer
spellingShingle	Daniel A. Pfeffer misc glucose-6-phosphate dehydrogenase misc G6PD activity misc G6PD deficiency misc G6PD genotype misc Medicine misc R Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
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topic_title	Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis glucose-6-phosphate dehydrogenase G6PD activity G6PD deficiency G6PD genotype
topic	misc glucose-6-phosphate dehydrogenase misc G6PD activity misc G6PD deficiency misc G6PD genotype misc Medicine misc R
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title	Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
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title_full	Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
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author_browse	Daniel A. Pfeffer Ari Winasti Satyagraha Arkasha Sadhewa Mohammad Shafiul Alam Germana Bancone Yap Boum Marcelo Brito Liwang Cui Zeshuai Deng Gonzalo J. Domingo Yongshu He Wasif A. Khan Mohammad Golam Kibria Marcus Lacerda Didier Menard Wuelton Monteiro Sampa Pal Sunil Parikh Arantxa Roca-Feltrer Michelle Roh Mahmoud M. Sirdah Duoquan Wang Qiuying Huang Rosalind E. Howes Ric N. Price Benedikt Ley
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title_sort	genetic variants of glucose-6-phosphate dehydrogenase and their associated enzyme activity: a systematic review and meta-analysis
title_auth	Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
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 <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.
abstractGer	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.
abstract_unstemmed	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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title_short	Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis
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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. 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Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis

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