Publication Date:
2009-12-17
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Louicharoen, Chalisa -- Patin, Etienne -- Paul, Richard -- Nuchprayoon, Issarang -- Witoonpanich, Bhee -- Peerapittayamongkol, Chayanon -- Casademont, Isabelle -- Sura, Thanyachai -- Laird, Nan M -- Singhasivanon, Pratap -- Quintana-Murci, Lluis -- Sakuntabhai, Anavaj -- Medical Research Council/United Kingdom -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2009 Dec 11;326(5959):1546-9. doi: 10.1126/science.1178849.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut Pasteur, Laboratoire de la Genetique de la reponse aux infections chez l'homme, 75724 Paris, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20007901" target="_blank"〉PubMed〈/a〉
Keywords:
Aging
;
Erythrocytes/metabolism/parasitology
;
Female
;
Gene Dosage
;
Genetic Association Studies
;
Genetic Predisposition to Disease
;
Genotype
;
Glucosephosphate Dehydrogenase/*genetics
;
Glucosephosphate Dehydrogenase Deficiency/blood/complications/*genetics
;
Haplotypes
;
Humans
;
Immunity, Innate
;
Malaria, Falciparum/complications/genetics/parasitology
;
Malaria, Vivax/complications/genetics/*parasitology
;
Male
;
*Mutation
;
Plasmodium falciparum/physiology
;
Plasmodium vivax/*physiology
;
Polymorphism, Single Nucleotide
;
*Selection, Genetic
;
Thailand
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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