Glucose-6-phosphate dehydrogenase deficient variants are associated with reduced susceptibility to malaria in the Brazilian Amazon
Glucose-6-phosphate dehydrogenase deficient variants are associated with reduced susceptibility to malaria in the Brazilian Amazon
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DOI：
10.1093/trstmh/trt015
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发表时间：
2013-05-01
影响因子：
2.2
通讯作者：
Alecrim, Maria G.
中科院分区：
文献类型：
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作者：
Santana, Marli S.;Monteiro, Wuelton M.;Alecrim, Maria G.
葡萄糖-6-磷酸脱氢酶缺乏症（G6 PDd）已被证明可以预防非洲和亚洲的疟疾感染和严重表现，但在美洲缺乏研究。本研究旨在了解巴西亚马逊地区G6 PDd的流行情况及其与疟疾发病的关系，并在男性人群中进行横断面研究，以估计G6 PDd和疟疾感染的流行情况。对G6 PD缺陷样品进行基因分型以鉴定缺陷变体。在1478名男性中检出G6 PD缺陷者66名，患病率为4.5（95 CI 3.44 5.56）。56个G6 PD缺陷个体（3.8; 95 CI 2.824.77）呈现G6 PD A变体突变，而10个严重缺陷个体（0.7; 95 CI 0.420.97）被基因分型为G6 PD地中海变体携带者。调整年龄后，G6 PD缺陷个体报告疟疾发作的可能性较小，保护作用与酶活性有关，GG 6PD A变体携带者的发病率降低88（AOR：0.119; 95 CI 0.0570.252; p 0.001）和Meditarrenean变体携带者的风险降低99（AOR：0.010; 95 CI 0.0020.252; p 0.001）。另一方面，G6 PD缺乏受试者报告在疟疾发作期间更需要输血（p 0.001）。在巴西亚马逊地区，G6 PD酶活性与疟疾易感性直接相关，其中间日疟原虫占主导地位。严重的G6 PDd与疟疾相关输血的风险相当高。
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) has been shown to protect against malaria infection and severe manifestations in African and Asia, but there is a scarcity of studies in the Americas. This study aimed to study the prevalence of G6PDd and its association with malaria occurrence in the Brazilian Amazon.A cross-sectional study was conducted in the male population to estimate the prevalence of G6PDd and malaria infection. G6PD deficient samples were genotyped to identify the deficient variant. Number of previous malaria episodes and need for blood transfusion during malaria episodes were recorded by applying a standardized questionary.From a sample of 1478 male individuals, 66 were detected as G6PD deficient, resulting in a prevalence of of 4.5 (95 CI 3.445.56). Fifty six G6PD deficient individuals (3.8; 95 CI 2.824.77) presented the G6PD A-variant mutation, while 10 individuals (0.7; 95 CI 0.420.97) severely deficient were genotyped as carriers of the G6PD Mediterranean variant. After adjusting for age, G6PD deficient individuals were less likely to report the occurrence of malaria episodes, and the protective effect was related to the enzyme activity, with carriers of the GG6PD A-variant presenting a 88 reduction (AOR: 0.119; 95 CI 0.0570.252; p 0.001) and carriers of the Meditarrenean variant presenting 99 lower risk (AOR: 0.010; 95 CI 0.0020.252; p 0.001) when compared to non-deficient individuals. On the other hand, G6PD deficient subjects reported higher need of transfusion during malaria episodes (p 0.001).G6PD enzyme activity was directly related to susceptibility to malaria in the Brazilian Amazon, where P. vivax predominates. Severe G6PDd was associated with considerable higher risk of malaria-related transfusions.