Positively Selected G6PD-Mahidol Mutation Reduces Plasmodium vivax Density in Southeast Asians

被引：139

作者：

Louicharoen, Chalisa ^{[2
,3
]}

Patin, Etienne ^{[1
]}

Paul, Richard ^{[2
]}

Nuchprayoon, Issarang ^{[4
]}

Witoonpanich, Bhee ^{[2
]}

Peerapittayamongkol, Chayanon ^{[2
]}

Casademont, Isabelle ^{[2
]}

Sura, Thanyachai ^{[5
]}

Laird, Nan M. ^{[6
]}

Singhasivanon, Pratap ^{[7
]}

Quintana-Murci, Lluis ^{[1
]}

Sakuntabhai, Anavaj ^{[2
,5
]}

机构：

[1] Inst Pasteur, CNRS, URA3012, Human Evolutionary Genet Unit, F-75015 Paris, France

[2] Inst Pasteur, Lab Genet Reponse Infect Chez Homme, F-75724 Paris, France

[3] Chulalongkorn Univ, Fac Grad Sch, Interdept Program Biomed Sci, Bangkok, Thailand

[4] Chulalongkorn Univ, Fac Med, Dept Pediat, Bangkok 10330, Thailand

[5] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Med, Bangkok 10400, Thailand

[6] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[7] Mahidol Univ, Fac Trop Med, Dept Trop Hyg, Bangkok, Thailand

来源：

SCIENCE | 2009年 / 326卷 / 5959期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

HUMAN-POPULATIONS; KAREN POPULATION; HUMAN GENOME; MALARIA; FALCIPARUM; DEFICIENCY; RESISTANCE; THAILAND; ORIGIN; G6PD;

D O I：

10.1126/science.1178849

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Glucose-6-phosphate dehydrogenase (G6PD) deficiency-the most common known enzymopathy-is associated with neonatal jaundice and hemolytic anemia usually after exposure to certain infections, foods, or medications. Although G6PD-deficient alleles appear to confer a protective effect against malaria, the link with clinical protection from Plasmodium infection remains unclear. We investigated the effect of a common G6PD deficiency variant in Southeast Asia-the G6PD-Mahidol(487A) variant-on human survival related to vivax and falciparum malaria. Our results show that strong and recent positive selection has targeted the Mahidol variant over the past 1500 years. We found that the G6PD-Mahidol(487A) variant reduces vivax, but not falciparum, parasite density in humans, which indicates that Plasmodium vivax has been a driving force behind the strong selective advantage conferred by this mutation.

引用

页码：1546 / 1549

页数：4

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