Malaria: looking for selection signatures in the human PKLR gene region

• Tipo: Artigo em Revista Científica Internacional
• Data: 2010

Autores

Patricia Machado (Autor) Outra; Rui Pereira (Autor) Outra; Ana Mafalda Rocha (Autor) Outra; Licinio Manco (Autor) Outra; Natercia Fernandes (Autor) Outra; Juliana Miranda (Autor) Outra; Leticia Ribeiro (Autor) Outra; Virgilio E do Rosario (Autor) Outra; Antonio Amorim (Autor) FCUP; Leonor Gusmao (Autor) FCUP; Ana Paula Arez (Autor) Outra

Revista

Título: British Journal of Haematology

Vol. 149

Páginas: 775-784

ISSN: 0007-1048

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 16 Citações

Scopus - 17 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-003-5WE

DOI: 10.1111/j.1365-2141.2010.08165.x

Abstract (EN): P>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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 10