ArticleGenetics2024
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Article in Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Evolution-guided yeast complementation reveals functional differences in human PSPH variants.FEBS open bio · 2026Article
- Evidence for G6PD variant classification from multiplexed functional assays.Genome biology · 2026Article
- Evidence forbioRxiv : the preprint server for biology · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Prevalence of G6PD candidate variants in malaria-endemic populations of northern Brazil.The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious DiseasesArticle
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6 authors.
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Abstract
The glucose-6-phosphate dehydrogenase (G6PD) enzyme protects red blood cells against oxidative damage. Individuals with G6PD-impairing polymorphisms are at risk of hemolytic anemia from oxidative stressors. Prevention of G6PD deficiency-related hemolytic anemia is achievable by identifying affected individuals through G6PD genetic testing. However, accurately predicting the clinical consequence of G6PD variants is limited by over 800 G6PD variants which remain of uncertain significance (VUS). There also remains inconsistency in which deficiency-causing variants are included in genetic testing arrays: many institutions only test c.202G > A, though dozens of other variants can cause G6PD deficiency. Here, we improve G6PD genotype interpretations using the All of Us Research Program data and a yeast functional assay. We confirm that G6PD coding variants are the main contributor to decreased G6PD activity and that 13% of individuals in the All of Us data with deficiency-causing variants would be missed by only genotyping for c.202G > A. We expand clinical interpretation for G6PD VUS, reporting that c.595A > G ("Dagua" or "Açores") and the novel variant c.430C > G reduce activity sufficiently to lead to G6PD deficiency. We also provide evidence that 5 missense VUS are unlikely to lead to G6PD deficiency, and we applied the new World Health Organization (WHO) guidelines to recommend classifying 2 synonymous variants as WHO Class C. In total, we provide new or updated clinical interpretations for 9 G6PD variants. We anticipate these results will improve the accuracy, and prompt increased use, of G6PD genetic tests through a more complete clinical interpretation of G6PD variants.
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