Africa: Genome Studies to Fight Disease

Studying the genetic basis of disease is hugely important in Africa, but has been difficult due to high genetic diversity among the population and a scarcity of existing information. The African Genome Variation Project was established to help tackle disease in this continent using novel genomic data; a study published recently in Nature describes its novel findings.

The genetic diversity of the human population in Africa is the highest in the world, since human genomes elsewhere are a subset of those found in the continent of our origin.  The AGVP, supported by the Wellcome Trust, aimed to build our existing knowledge of genetic variation in Africa. The Project used improved methods to genotype DNA samples from 1800 people across sub-Saharan Africa (SSA), including whole-genome sequencing of 320 individuals, which provided a wealth of information spanning 18 ethno-linguistic groups. In particular, the scientists were interested in investigating the genetic basis of disease, to help fight devastating epidemics such as malaria.


The findings suggested that there may in fact be more genetic similarities in the study population than previously thought, which is “good, because it means we can now design large scale trials to understand diseases susceptibility”, said Dr Sandhu from the University of Cambridge and the Wellcome Trust. The data showed significant genetic admixture, or interbreeding between previously separated populations. Patterns of Eurasian and Hunter Gatherer admixture across Africa provided new genetic support for the “back to Africa” theory, and for the Bantu expansion 3000-5000 years ago.

Fine-mapping association signals at disease-specific loci, for example the sickle cell anemia locus, demonstrated heterogeneity across populations; the differences in allele frequencies and linkage-disequilibrium patterns at disease loci showed the effect of independent selection under different environments.

The AGVP’s findings and methods will directly contribute to large-scale medical genomic studies, to understand the causes of chronic diseases – an important step in fighting the devastating burden of disease in Africa.

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Veronica Wignall

Veronica is a Biology graduate from the University of Bristol, she is currently an editorial assistant but hopes to move into science media comms! Follow Veronica on Twitter @vronwig

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