Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World

C. George Priya Doss, Dima R. Alasmar, Reem I. Bux, P. Sneha, Fadheela Dad Bakhsh, Iman Al Azwani, Rajaa El Bekay, Hatem Zayed

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations.

Original languageEnglish
Article number37284
JournalScientific Reports
Volume6
DOIs
Publication statusPublished - 17 Nov 2016
Externally publishedYes

Fingerprint

Arab World
Glucose 1-Dehydrogenase
Molecular Epidemiology
Mutation
Missense Mutation
Computer Simulation
Glucosephosphate Dehydrogenase Deficiency
Molecular Dynamics Simulation
Virulence
Middle East
PubMed
Databases
Enzymes

ASJC Scopus subject areas

  • General

Cite this

Doss, C. G. P., Alasmar, D. R., Bux, R. I., Sneha, P., Bakhsh, F. D., Al Azwani, I., ... Zayed, H. (2016). Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World. Scientific Reports, 6, [37284]. https://doi.org/10.1038/srep37284

Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World. / Doss, C. George Priya; Alasmar, Dima R.; Bux, Reem I.; Sneha, P.; Bakhsh, Fadheela Dad; Al Azwani, Iman; Bekay, Rajaa El; Zayed, Hatem.

In: Scientific Reports, Vol. 6, 37284, 17.11.2016.

Research output: Contribution to journalArticle

Doss, CGP, Alasmar, DR, Bux, RI, Sneha, P, Bakhsh, FD, Al Azwani, I, Bekay, RE & Zayed, H 2016, 'Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World', Scientific Reports, vol. 6, 37284. https://doi.org/10.1038/srep37284
Doss, C. George Priya ; Alasmar, Dima R. ; Bux, Reem I. ; Sneha, P. ; Bakhsh, Fadheela Dad ; Al Azwani, Iman ; Bekay, Rajaa El ; Zayed, Hatem. / Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World. In: Scientific Reports. 2016 ; Vol. 6.
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