Universidade Do Estado Do Amazonas-Fundação Hospitalar de Hematologia E Hemoterapia Do Amazonas, Manaus, Amazonas, Brazil.
Universidade Federal Do Amazonas, Faculdade de Ciências Farmacêuticas, Avenida General Rodrigo Otávio Jordão Ramos, Manaus, Amazonas, 6200, Brazil.
Malar J. 2022 May 8;21(1):144. doi: 10.1186/s12936-022-04165-y.
Over a third of the world's population is at risk of Plasmodium vivax-induced malaria. The unique aspect of the parasite's biology and interactions with the human host make it harder to control and eliminate the disease. Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Duffy-negative blood groups are two red blood cell (RBC) variations that can confer protection against malaria.
Molecular genotyping of G6PD and Duffy variants was performed in 225 unrelated patients (97 with uncomplicated and 128 with severe vivax malaria) recruited at a Reference Centre for Infectious Diseases in Manaus. G6PD and Duffy variants characterizations were performed using Real Time PCR (qPCR) and PCR-RFLP, respectively.
The Duffy blood group system showed a phenotypic distribution Fy(a + b-) of 70 (31.1%), Fy(a + b +) 96 (42.7%), Fy(a-b +) 56 (24.9%) and Fy(a-b-) 1 (0.44%.) The genotype FYA/FYB was predominant in both uncomplicated (45.3%) and severe malaria (39.2%). Only one Duffy phenotype Fy(a-b) was found and this involved uncomplicated vivax malaria. The G6PD c.202G > A variant was found in 11 (4.88%) females and 18 (8.0%) males, while c.376A > G was found in 20 females (8.88%) and 23 (10.22%) male patients. When combined GATA mutated and c.202G > A and c.376A > G mutated, was observed at a lower frequency in uncomplicated (3.7%) in comparison to severe malaria (37.9%). The phenotype Fy(a-b +) (p = 0.022) with FYB/FYB (p = 0.015) genotype correlated with higher parasitaemia.
A high prevalence of G6PD c202G > A and c.376A > G and Duffy variants is observed in Manaus, an endemic area for vivax malaria. In addition, this study reports for the first time the Duffy null phenotype Fy(a-b-) in the population of the Amazonas state. Moreover, it is understood that the relationship between G6PD and Duffy variants can modify clinical symptoms in malaria caused by P. vivax and this deserves to be further investigated and explored among this population.
世界上超过三分之一的人口面临由间日疟原虫引起的疟疾风险。寄生虫的生物学和与人类宿主的相互作用的独特性使得控制和消除这种疾病更加困难。葡萄糖-6-磷酸脱氢酶（G6PD）缺乏和 Duffy 阴性血型是两种可以提供疟疾保护的红细胞（RBC）变异。
在马瑙斯传染病参考中心招募的 225 名无关患者（97 名患有单纯性和 128 名患有严重间日疟）中进行了 G6PD 和 Duffy 变异的分子基因分型。使用实时 PCR（qPCR）和 PCR-RFLP 分别进行 G6PD 和 Duffy 变异特征分析。
Duffy 血型系统表现出 Fy(a+ b-)的表型分布为 70 例（31.1%），Fy(a+ b+)为 96 例（42.7%），Fy(a-b+)为 56 例（24.9%），Fy(a-b-)为 1 例（0.44%）。FYA/FYB 基因型在单纯性和严重疟疾中均占优势（分别为 45.3%和 39.2%）。仅发现一种 Duffy 表型 Fy(a-b)，且涉及单纯性间日疟。发现了 G6PD c.202G > A 变异在 11 名女性（4.88%）和 18 名男性（8.0%）中，而 c.376A > G 变异在 20 名女性（8.88%）和 23 名男性（10.22%）中。当联合 GATA 突变和 c.202G > A 和 c.376A > G 突变时，在单纯性疟疾中观察到较低的频率（3.7%），而在严重疟疾中观察到较高的频率（37.9%）。Fy(a-b+)表型（p=0.022）与 FYB/FYB 基因型（p=0.015）与较高的寄生虫血症相关。
在马瑙斯，一种间日疟原虫流行地区，观察到 G6PD c202G > A 和 c.376A > G 以及 Duffy 变异的高流行率。此外，本研究首次报告了亚马逊州人群中 Duffy 缺失表型 Fy(a-b-)。此外，人们认识到 G6PD 和 Duffy 变异之间的关系可以改变由 P. vivax 引起的疟疾的临床症状，这值得在该人群中进一步研究和探索。
