Study: Locus-specific DNA variants provide protection against malaria

New research conducted by MalariaGen and published recently in Nature has linked DNA variations in a specific location, or locus, to the progression of malaria, explaining why some children do not develop the disease in areas with universal exposure.

"We can now say, unequivocally, that genetic variations in this region of the human genome provide strong protection against severe malaria in real-world settings, making a difference to whether a child lives or dies,” researcher Dominic Kwiatkowski, lead author of the paper, from Wellcome Trust Sanger Institute and the Wellcome Trust Centre for Human Genetics, said. “These findings indicate that balancing selection and resistance to malaria are deeply intertwined themes in our ancient evolutionary history.”

The findings are based on a genome-wide association study (GWAS) that sampled 5,633 children with severe malaria and 5,919 children without it, which was replicated with an additional 14,000 children.

“How these findings could be used in public health settings, as a marker of individual and population risk of malaria infection, is the next step,” Ogobara Doumbo, a researcher from the University of Bamako's Malaria Research and Training Center in Mali, said. “Applying the findings in this way will only be possible by training a critical mass of African scientists in genomics and big-data management and analysis.”

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