Format

Send to

Choose Destination
Curr Opin Immunol. 2014 Oct;30:39-47. doi: 10.1016/j.coi.2014.06.004. Epub 2014 Jul 1.

An evolutionary perspective of how infection drives human genome diversity: the case of malaria.

Author information

1
Department of Public Health and Infectious Diseases, University of Rome 'La Sapienza', Rome, Italy; Istituto Pasteur, Fondazione Cenci Bolognetti, University of Rome 'La Sapienza', Rome, Italy. Electronic address: valentina.mangano@uniroma1.it.
2
Department of Public Health and Infectious Diseases, University of Rome 'La Sapienza', Rome, Italy; Istituto Pasteur, Fondazione Cenci Bolognetti, University of Rome 'La Sapienza', Rome, Italy. Electronic address: david.modiano@uniroma1.it.

Abstract

Infection with malaria parasites has imposed a strong selective pressure on the human genome, promoting the convergent evolution of a diverse range of genetic adaptations, many of which are harboured by the red blood cell, which hosts the pathogenic stage of the Plasmodium life cycle. Recent genome-wide and multi-centre association studies of severe malaria have consistently identified ATP2B4, encoding the major Ca(2+) pump of erythrocytes, as a novel resistance locus. Evidence is also accumulating that interaction occurs among resistance loci, the most recent example being negative epistasis among alpha-thalassemia and haptoglobin type 2. Finally, studies on the effect of haemoglobin S and C on parasite transmission to mosquitoes have suggested that protective variants could increase in frequency enhancing parasite fitness.

PMID:
24996199
DOI:
10.1016/j.coi.2014.06.004
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center