Glycophorin alleles link to malaria protection

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Science  16 Jun 2017:
Vol. 356, Issue 6343, pp. 1122-1123
DOI: 10.1126/science.aan4184

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Malaria caused by Plasmodium falciparum remains a leading cause of childhood mortality in many parts of the world. Although there have been recent reductions in the number of deaths, even with modern interventions (such as drugs and insecticide-treated bed nets), in the year 2000 a child growing up in the Congo still had a 22.5% cumulative risk of dying from malaria (1). Given this high historical death rate, it is not that surprising that human genetic variants that protect against malaria are common in populations that have historically lived in wet, tropical areas. A textbook example is the sickle cell allele that provides protection against malaria in heterozygous carriers. The high death rate of untreated P. falciparum malaria exerts a strong evolutionary pressure on the human genome. On page 1139 of this issue, a genomic study by Leffler et al. from the Malaria Genomic Epidemiology Network (2) links complex structural variants in the human glycophorin locus to protection from severe disease.