Researchers have discovered that protection from the most severe form of malaria is linked with natural variation in human red blood cell genes.
A study from the Wellcome Trust Sanger Institute, the Wellcome Trust Centre for Human Genetics and their collaborators has identified a genetic rearrangement of red blood cell glycophorin receptors that confers a 40 percent reduced risk from malaria.
The most widespread malarial parasite in Africa is Plasmodium falciparum.
Plasmodium parasites infect human red blood cells and gain entry through receptors on the cell surface.
Researchers investigated the glycophorin area of the genome in more detail than before using new whole-genome sequence data from 765 volunteers in the Gambia, Burkina Faso, Cameroon, and Tanzania.
Using this new information they then undertook a study across the Gambia, Kenya, and Malawi that included 5310 individuals from the normal population and 4579 people who were hospitalised from severe malaria.
They discovered that people who have a particular rearrangement of the glycophorin genes had a 40 percent reduced risk of severe malaria. This shows that that people with complex rearrangement of GYPA and GYPB genes, forming a hybrid glycophori may not develop severe complications malaria.
The hybrid GYPB-A gene is found in a particular rare blood group – part of the MNS blood group system – where it is known as Dantu. The study found that the GYPB-A Dantu hybrid was present in some people from East Africa, in Kenya, Tanzania, and Malawi, but that it was not present in volunteers from West African populations.