Abstract
Malaria, caused by Plasmodium parasites, is thought to be one of the strongest selective forces that has shaped the genome of modern humans and was endemic in Europe until recent times. Due to its eradication around mid-twentieth century, the potential selective history of malaria in European populations is largely unknown. Here, we screen 224 ancient European genomes from the Upper Palaeolithic to the post-Roman period for 22 malaria-resistant alleles in twelve genes described in the literature. None of the most specific mutations for malaria resistance, like those at G6PD, HBB or Duffy blood group, have been detected among the available samples, while many other malaria-resistant alleles existed well before the advent of agriculture. We detected statistically significant differences between ancient and modern populations for the ATP2B4, FCGR2B and ABO genes and we found evidence of selection at IL-10 and ATP2B4 genes. However it is unclear whether malaria is the causative agent, because these genes are also involved in other immunological challenges. These results suggest that the selective force represented by malaria was relatively weak in Europe, a fact that could be associated to a recent historical introduction of the severe malaria pathogen.
Highlights
Malaria, caused by Plasmodium parasites, is thought to be one of the strongest selective forces that has shaped the genome of modern humans and was endemic in Europe until recent times
Populations from different geographical areas have developed different genetic mechanisms adapted to malaria resistance; for instance, the HbS allele at the HBB gene is common in Africa but rare in Southeast Asia, whereas the HbE alelle shows a reversed pattern
Haplotype analysis at the glucose-6-phosphatase deficiency (G6PD) locus suggests that the African resistance allele to P. falciparum originated within the last 10,000 years[4] while a similar analysis at the HbE alleles in Southeast Asia yielded an even more recent date, around 5,000 years ago[5]
Summary
Malaria, caused by Plasmodium parasites, is thought to be one of the strongest selective forces that has shaped the genome of modern humans and was endemic in Europe until recent times. Haplotype analysis at the G6PD locus suggests that the African resistance allele to P. falciparum originated within the last 10,000 years[4] while a similar analysis at the HbE alleles (variants of the HBB gene) in Southeast Asia yielded an even more recent date, around 5,000 years ago[5]. These and other estimates associate the resistance to P. falciparum with the onset of agriculture and the emergence of favourable environments for mosquito proliferation after the clearance of woodlands for farming. The limited data available does show that P. vivax and P. falciparum may have had at least partially different effects on the human genome[1]
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