In a recent study published in Science, an international team of scientists used genome sequence data collected from thousands of people with or without malaria, to find structural variations in human red blood cells. Certain variations may protect people infected with the Plasmodium falciparum parasite from severe malaria. Malaria is a mosquito-borne blood disease that may lead to severe complications or death, if left untreated. Over 200 million cases of malaria are found worldwide, with most affecting children in the African Region. The researchers discovered that copy number changes in glycophorin-coding genes related to red blood cell invasion receptors were more common in populations from sub-Saharan Africa and appeared to lower the risk of severe malaria. These findings are significant because they link structural variation of red blood cell invasion receptors with natural resistance to severe malaria.
Full details of the study can be found in the journal the Science publication: Leffer etal., Science 356, (2017); doi:10.1126/science.aam6393 or in the GenomeWeb article linked below.
