Paper on human-malaria genetic association now out

Our manuscript "Malaria proteection due to sickle haemoglobin depends on parasite genotype" has been published in Nature (doi: 10.1038/s41586-021-04288-3; see also the preprint on bioRxiv). The paper reports the discovery that genetic variants in three regions of the P.falciparum genome are associated with infections of individuals carrying the sickle haemoglobin allele (HbS).

Much of the paper is devoted to analysing these variants, which we call 'Pfsa' (for "P.falciparum sickle-associated"). They have interesting - or perhaps I should say "weird" - population-genetic features including strong between-chromosome linkage disequilibrium, that indicates they have evolved under strong selective forces. But they haven't reached fixation in any of the populations we looked at. Exactly what the underlying genes do, and the biological implications of the variants, is not known at present, but we'd like to find out!

See the paper for more...


If you're looking for data from this paper, it's available from Zenodo and the ENA and is described in full detail on the accompanying MalariaGEN resource page. The human data comes from our human GWAS of severe malaria susceptibility. In bringing the manuscript to completion, we were also fortunate to collaborate with authors from another recent paper that identified the gene PF3D7_1127000 as differentially upregulated in trophozoite-stage infections of HbS individuals - read it here.