Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World
| Autor: | Priya Doss, C George, Alasmar, Dima R, Bux, Reem I, Sneha, P, Bakhsh, Fadheela Dad, Al-Azwani, Iman, Bekay, Rajaa El, Zayed, Hatem |
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| Přispěvatelé: | [Priya Doss,CG, Sneha,BP] Department of Integrative Biology, School of Biosciences and Technology, VIT University, Vellore, India. [Alasmar,DR, Bux,RI, Bakhsh,F, Al-Azwani,I, Zayed,H] College of Health Sciences, Biomedical Sciences Department, Qatar University, Doha, Qatar. [El Bekay,R] CIBER Pathophysiology of obesity and nutrition CB06/03, Carlos III Health Institute. Unidad de Gestion Clínica Intercentros de Endocrinología y Nutrición, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Regional Universitario de Málaga/Universidad de Málaga, Málaga, Spain., The QUST-CAS-FALL-15/16-24. |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
PubMed
Phenomena and Processes::Microbiological Phenomena::Virulence [Medical Subject Headings] Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings] Named Groups::Persons::Population Groups::Ethnic Groups::Arabs [Medical Subject Headings] Mutación missense Árabes Mundo árabe Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] Medio oriente Diseases::Congenital Hereditary and Neonatal Diseases and Abnormalities::Genetic Diseases Inborn::Metabolism Inborn Errors::Carbohydrate Metabolism Inborn Errors::Glucosephosphate Dehydrogenase Deficiency [Medical Subject Headings] Humans Geographicals::Geographic Locations::Historical Geographic Locations::Middle East [Medical Subject Headings] Mutación Virulencia Deficiencia de glucosafosfato deshidrogenas Simulación de dinámica molecular Eliminación de secuencia Information Science::Information Science::Medical Informatics::Medical Informatics Applications::Information Systems::Online Systems::PubMed [Medical Subject Headings] Glucosafosfato deshidrogenasa Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Sequence Deletion [Medical Subject Headings] Arab countries Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Mutation Missense [Medical Subject Headings] Phenomena and Processes::Chemical Phenomena::Molecular Structure::Molecular Dynamics Simulation [Medical Subject Headings] Protein structure predictions Disciplines and Occupations::Social Sciences::Anthropology::Anthropology Cultural::Culture::Civilization::Arab World [Medical Subject Headings] Haematological diseases |
| Popis: | 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. QUST-CAS-FALL-15/16-24 grant |
| Databáze: | OpenAIRE |
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