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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Malaria: Looking for selection signatures in the human PKLR gene region
British Journal of Haematology, Volume 149, No. 5, Year 2010
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Description
The genetic component of susceptibility to malaria is both complex and multigenic and the better-known protective polymorphisms are those involving erythrocyte-specific structural proteins and enzymes. In vivo and in vitro data have suggested that pyruvate kinase deficiency, which causes a nonspherocytic haemolytic anaemia, could be protective against malaria severity in humans, but this hypothesis remains to be tested. In the present study, we conducted a combined analysis of Short Tandem Repeats (STRs) and Single Nucleotide Polymorphisms (SNPs) in the pyruvate kinase-encoding gene (PKLR) and adjacent regions (chromosome 1q21) to look for malaria selective signatures in two sub-Saharan African populations from Angola and Mozambique, in several groups with different malaria infection outcome. A European population from Portugal, including a control and a pyruvate kinase-deficient group, was used for comparison. Data from STR and SNP loci spread along the PKLR gene region showed a considerably higher differentiation between African and Portuguese populations than that usually found for neutral markers. In addition, a wider region showing strong linkage disequilibrium was found in an uncomplicated malaria group, and a haplotype was found to be associated with this clinical group. Altogether, this data suggests that malaria selective pressure is acting in this genomic region. © 2010 Blackwell Publishing Ltd.
Authors & Co-Authors
Machado, Patrícia
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Pereira, Rui
Portugal, Porto
Universidade do Porto
Spain, Santiago de Compostela
Universidad de Santiago de Compostela
Rocha, Ana Mafalda
Portugal, Porto
Universidade do Porto
Manco, Licínio
Portugal, Coimbra
Universidade de Coimbra, Centro de Investigação em Antropologia e Saúde
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Fernandes, Natércia
Portugal
Universidade Eduardo Mondlane
Miranda, Juliana
Angola, Luanda
Hospital Pediátrico David Bernardino
Ribeiro, Letícia
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
do Rosário, Virgílio Estólio
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Amorim, Antonio
Portugal, Porto
Universidade do Porto
Gusmão, Leonor
Portugal, Porto
Universidade do Porto
Arez, Ana Paula
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Statistics
Citations: 26
Authors: 11
Affiliations: 7
Identifiers
Doi:
10.1111/j.1365-2141.2010.08165.x
ISSN:
00071048
e-ISSN:
13652141
Research Areas
Genetics And Genomics
Infectious Diseases
Study Design
Cross Sectional Study
Study Locations
Angola
Mozambique