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Genes Immun. 2012 Jan;13(1):98-102. doi: 10.1038/gene.2011.54. Epub 2011 Aug 11.

Genetic diversity in human erythrocyte pyruvate kinase.

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1
Department of Biochemistry, McGill University, Complex Traits Group, Montreal, Canada.

Abstract

Previously, we have shown that pyruvate kinase, liver and red cell isoform (PKLR) deficiency protects mice in vivo against blood-stage malaria, and observed that reduced PKLR function protects human erythrocytes against Plasmodium falciparum replication ex vivo. Here, we have sequenced the human PKLR gene in 387 individuals from malaria-endemic and other regions in order to assess genetic variability in different geographical regions and ethnic groups. Rich genetic diversity was detected in PKLR, including 59 single-nucleotide polymorphisms and several loss-of-function variants (frequency 1.5%). Haplotype distribution and allele frequency varied considerably with geography. Neutrality testing suggested positive selection of the genein the sub-Saharan African and Pakistan populations. It is possible that such positive selection involves the malarial parasite.

PMID:
21833022
DOI:
10.1038/gene.2011.54
[Indexed for MEDLINE]
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