Genetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective

Malaria Journal

Research

Andrés López-Cortés¹  Ana Karina-Zambrano²  Jennifer Gallardo-Condor³  Sebastián Atarihuana³  Marco Coral⁴  Karina Jimenes-Vargas⁵  Alejandro Cabrera-Andrade⁶  Rodrigo Flores-Espinoza⁷  Germán Burgos⁸ 

[1] Cancer Research Group (CRG), Faculty of Medicine, Universidad de Las Américas, Quito, Ecuador;Latin American Network for the Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain;Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador;Facultad de Ingeniería y Ciencias Aplicadas, Universidad de Las Américas, Quito, Ecuador;Grupo de Bio-Quimioinformática, Universidad de Las Américas, Quito, Ecuador;Carrera de Medicina Veterinaria, Facultad de Ciencias de la Salud, Universidad de Las Américas, Quito, Ecuador;Grupo de Bio-Quimioinformática, Universidad de Las Américas, Quito, Ecuador;Department of Computer Science and Information Technologies, Computer Science Faculty, CITIC, RNASA Group, University of A Coruña, A Coruña, Spain;Grupo de Bio-Quimioinformática, Universidad de Las Américas, Quito, Ecuador;Escuela de Enfermería, Facultad de Ciencias de la Salud, Universidad de Las Américas, Quito, Ecuador;Laboratório de Diagnóstico por DNA (LDD), Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil;One Health Research Group, Facultad de Medicina, Universidad de las Américas, Quito, Ecuador;Grupo de Medicina Xenómica, Instituto de Ciencias Forenses, Universidad de Santiago de Compostela, A Coruña, Spain;

关键词: Glucose-6-phosphate dehydrogenase;    G6PD deficiency;    Single nucleotide variants;    Malaria clusters;    Ecuador;    Afro-Ecuadorians;    Pharmacogenetics;   

DOI  :  10.1186/s12936-023-04716-x

 received in 2023-07-11, accepted in 2023-09-12,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundGlucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with molecular variants associated with reduced enzymatic activity are susceptible to oxidative stress in red blood cells, thereby increasing the risk of pathophysiological conditions and toxicity to anti-malarial treatments. Globally, the prevalence of G6PDd varies among populations. Accordingly, this study aims to characterize G6PDd distribution within the Ecuadorian population and to describe the spatial distribution of reported malaria cases.MethodsMolecular variants associated with G6PDd were genotyped in 581 individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnic groups. Additionally, spatial analysis was conducted to identify significant malaria clusters with high incidence rates across Ecuador, using data collected from 2010 to 2021.ResultsThe A- c.202G > A and A- c.968T > C variants underpin the genetic basis of G6PDd in the studied population. The overall prevalence of G6PDd was 4.6% in the entire population. However, this frequency increased to 19.2% among Afro-Ecuadorian people. Spatial analysis revealed 12 malaria clusters, primarily located in the north of the country and its Amazon region, with relative risks of infection of 2.02 to 87.88.ConclusionsThe findings of this study hold significant implications for public health interventions, treatment strategies, and targeted efforts to mitigate the burden of malaria in Ecuador. The high prevalence of G6PDd among Afro-Ecuadorian groups in the northern endemic areas necessitates the development of comprehensive malaria eradication strategies tailored to this geographical region.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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