Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.

ABSTRACT:

Background

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

SUBMITTER: Malik S 

PROVIDER: S-EPMC8499492 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature