Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis

Frédéric B. Piel (), Anand P. Patil, Rosalind E. Howes, Oscar A. Nyangiri, Peter W. Gething, Thomas N. Williams, David J. Weatherall and Simon I. Hay ()
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Frédéric B. Piel: Spatial Ecology and Epidemiology Group, Tinbergen Building, University of Oxford
Anand P. Patil: Spatial Ecology and Epidemiology Group, Tinbergen Building, University of Oxford
Rosalind E. Howes: Spatial Ecology and Epidemiology Group, Tinbergen Building, University of Oxford
Oscar A. Nyangiri: Kenya Medical Research Institute/Wellcome Trust Programme, Centre for Geographic Medicine Research-Coast, PO Box 230, Kilifi District Hospital
Peter W. Gething: Spatial Ecology and Epidemiology Group, Tinbergen Building, University of Oxford
Thomas N. Williams: Kenya Medical Research Institute/Wellcome Trust Programme, Centre for Geographic Medicine Research-Coast, PO Box 230, Kilifi District Hospital
David J. Weatherall: Weatherall Institute of Molecular Medicine, John Radcliffe Hospital
Simon I. Hay: Spatial Ecology and Epidemiology Group, Tinbergen Building, University of Oxford

Nature Communications, 2010, vol. 1, issue 1, 1-7

Abstract: Abstract It has been 100 years since the first report of sickle haemoglobin (HbS). More than 50 years ago, it was suggested that the gene responsible for this disorder could reach high frequencies because of resistance conferred against malaria by the heterozygous carrier state. This traditional example of balancing selection is known as the 'malaria hypothesis'. However, the geographical relationship between the transmission intensity of malaria and associated HbS burden has never been formally investigated on a global scale. Here, we use a comprehensive data assembly of HbS allele frequencies to generate the first evidence-based map of the worldwide distribution of the gene in a Bayesian geostatistical framework. We compare this map with the pre-intervention distribution of malaria endemicity, using a novel geostatistical area-mean comparison. We find geographical support for the malaria hypothesis globally; the relationship is relatively strong in Africa but cannot be resolved in the Americas or in Asia.

Date: 2010
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DOI: 10.1038/ncomms1104

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