Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency against Plasmodium vivax malaria.
Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency against Plasmodium vivax malaria.
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地中海型葡萄糖-6-磷酸脱氢酶缺乏症对间日疟原虫疟疾的保护作用。
DOI：
10.7554/elife.62448
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发表时间：
2021-02-05
期刊：
影响因子：
7.7
通讯作者：
White NJ
中科院分区：
文献类型：
--
作者：
Awab GR;Aaram F;Jamornthanyawat N;Suwannasin K;Pagornrat W;Watson JA;Woodrow CJ;Dondorp AM;Day NP;Imwong M;White NJ
x -连锁葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是人类最常见的酶病。在欧洲和亚洲发现的严重地中海变体（G6PD Med）被认为可以预防疟疾，但其效果尚不清楚。我们拟合贝叶斯统计模型，观察了999例普什图人急性间日疟原虫疟疾患者和1408例人群对照的G6PD Med等位基因频率。G6PD Med与半合子雄性和纯合子雌性的间日疟症状发生率降低76%（95%可信区间[CI]， 58-88）和杂合子雌性的55% （95% CI, 38-68）相关。除非在普什图人中存在非常大的人口分层（混淆这些结果），否则G6PD Med基因型对急性间日疟疾具有非常大的基因剂量成比例的保护作用。测量健康受试者G6PD缺乏症患病率的研究大大高估了8-氨基喹啉根治性治疗后存在溶血风险的间日疟疾患者比例。
X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The severe Mediterranean variant (G6PD Med) found across Europe and Asia is thought to confer protection against malaria, but its effect is unclear. We fitted a Bayesian statistical model to observed G6PD Med allele frequencies in 999 Pashtun patients presenting with acute Plasmodium vivax malaria and 1408 population controls. G6PD Med was associated with reductions in symptomatic P. vivax malaria incidence of 76% (95% credible interval [CI], 58–88) in hemizygous males and homozygous females combined and 55% (95% CI, 38–68) in heterozygous females. Unless there is very large population stratification within the Pashtun (confounding these results), the G6PD Med genotype confers a very large and gene-dose proportional protective effect against acute vivax malaria. The proportion of patients with vivax malaria at risk of haemolysis following 8-aminoquinoline radical cure is substantially overestimated by studies measuring G6PD deficiency prevalence in healthy subjects.