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AuthorMalik, Shaza
AuthorZaied, Roan
AuthorSyed, Najeeb
AuthorJithesh, Puthen
AuthorAl-Shafai, Mashael
Available date2023-09-20T08:47:09Z
Publication Date2021
Publication NameHuman Genomics
ResourceScopus
ISSN14739542
URIhttp://dx.doi.org/10.1186/s40246-021-00358-9
URIhttp://hdl.handle.net/10576/47784
AbstractBackground: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the genetic basis of G6PDD in the Qatari population yet. Methods: In this study, we analyzed whole-genome sequencing data generated by the Qatar Genome Programme for 6045 Qatar Biobank participants, to identify G6PDD variants in the Qatari population. In addition, we assessed the impact of the novel variants identified on protein function both in silico and by measuring G6PD enzymatic activity in the subjects carrying them. Results: We identified 375 variants in/near G6PD gene, of which 20 were high-impact and 16 were moderate-impact variants. Of these, 14 were known G6PDD-causing variants. The most frequent G6PD-causing variants found in the Qatari population were p.Ser188Phe (G6PD Mediterranean), p.Asn126Asp (G6PD A +), p.Val68Met (G6PD Asahi), p.Ala335Thr (G6PD Chatham), and p.Ile48Thr (G6PD Aures) with allele frequencies of 0.0563, 0.0194, 0.00785, 0.0050, and 0.00380, respectively. Furthermore, we have identified seven novel G6PD variants, all of which were confirmed as G6PD-causing variants and classified as class III variants based on the World Health Organization's classification scheme. Conclusions: This is the first study investigating the molecular basis of G6PDD in Qatar, and it provides novel insights about G6PDD pathogenesis and highlights the importance of studying such understudied population.
SponsorOpen access was supported by Qatar University Grant (QUST-1-CHS-2021-12).
Languageen
PublisherBioMed Central Ltd
SubjectG6PD deficiency
Novel variants
Qatar Biobank (QBB)
Qatar Genome Programme (QGP)
Whole-genome sequencing (WGS)
TitleSeven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population
TypeArticle
Issue Number1
Volume Number15
dc.accessType Open Access


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