G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria

PeerJ

article

Fatou Thiam¹  Gora Diop²  Cedric Coulonges⁴  Céline Derbois⁵  Babacar Mbengue⁶  Alassane Thiam³  Cheikh Momar Nguer¹  Jean Francois Zagury⁴  Jean-Francois Deleuze⁵  Alioune Dieye⁶ 

[1]Groupe de Recherche Biotechnologie Appliquée et Bioprocédés Environnementaux ,(GRBA-BE), Laboratoire Eau, Energie, Environnement et Procédés Industriels ,(LE3PI), Département de Génie Chimique et Biologie Appliquée, Ecole Supérieure Polytechnique, Université Cheikh Anta DIOP de Dakar

[2]Unité Postulante de Biologie Génétique, Génomique et Bio-informatique ,(G2B), Département de Biologie Animale, Faculté des Sciences et Techniques, Université Cheikh Anta DIOP

[3]Pole d’Immunophysiopathologie & Maladies Infectieuses ,(IMI), Institut Pasteur de Dakar

[4]Equipe GBA «Génomique, Bioinformatique & Applications », Conservatoire National des Arts et Métiers

[5]CEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay

[6]Service d’Immunologie, Faculté de Médecine, de Pharmacie et d’Odontostomatologie, Université Cheikh Anta DIOP

关键词: HBB;    G6PD;    Polymorphisms;    Severe malaria;    Senegal;   

DOI  :  10.7717/peerj.13487

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

BackgroundHost genetic factors contribute to the variability of malaria phenotypes and can allow a better understanding of mechanisms involved in susceptibility and/or resistance to Plasmodium falciparum infection outcomes. Several genetic polymorphisms were reported to be prevalent among populations living in tropical malaria-endemic regions and induce protection against malaria. The present study aims to investigate the prevalence of HBB (chr11) and G6PD (chrX) deficiencies polymorphisms among Senegalese populations and their associations with the risk for severe Plasmodium falciparum malaria occurrence.MethodsWe performed a retrospective study with 437 samples, 323 patients recruited in hospitals located in three different endemic areas where malaria episodes were confirmed and 114 free malaria controls. The patients enrolled were classified into two groups: severe malaria (SM) (153 patients) and uncomplicated malaria (UM) (170 patients). PCR and DNA sequencing assessed host genetic polymorphisms in HBB and G6PD. Using a multivariate regression and additive model, estimates of the impact of human HBB and G6PD polymorphisms on malaria incidence were performed.Results3% were detected in the HBB gene (rs7946748, rs7480526, rs10768683, rs35209591, HbS (rs334) and rs713040) and two in the G6PD gene (rs762515 and rs1050828 (G6PD A). Analysis of selected HbS polymorphism showed significant association with protective effect against severe malaria with a significant p-value = 0.033 (OR 0.38, 95% CI [0.16–0.91]) for SM vs. UM comparison. Surprisingly, our study did not identify the protective effect of variant HbC polymorphism against severe malaria. Finally, we found some of the polymorphisms, like HbS (rs334), are associated with age and biological parameters like eosinophils, basophils, lymphocytes etc.ConclusionOur data report HBB and G6PD polymorphisms in the Senegalese population and their correlation with severe/mild malaria and outcome. The G6PD and HBB deficiencies are widespread in West Africa endemic malaria regions such as The Gambia, Mali, and Burkina Faso. The study shows the critical role of genetic factors in malaria outcomes. Indeed, genetic markers could be good tools for malaria endemicity prognosis.

【 授权许可】

CC BY