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African Susceptibility to TB Better Understood With Link to Genetic Variant
This is the first novel disease variant to be identified using this technique in Africans and demonstrates that such studies are viable in African populations, which have a high degree of genetic diversity.
So far, over 150 different studies have successfully identified genetic variants using this technique, but the vast majority - between 95-98 percent - have been only in people of European ancestry.
Researchers carried out a GWA study, and replicated their findings, using over 11,000 samples - 3,699 cases and 7,726 controls - from Ghana, The Gambia and Malawi as part of the African TB Genetics and the Consortium Wellcome Trust Case Control Consortium in search of genetic variants that increase susceptibility to TB.
Fredrik Vannberg of University of Oxford said: "Our challenges here were two-fold. We were looking for human genetic variants affecting susceptibility to a pathogen which itself differs genetically from region-to-region, and we were searching for these variants in African populations, which are genetically very diverse."
The researchers identified a genetic variant on chromosome 18, located in a 'gene desert', a region composed mainly of so-called 'junk DNA', which suggested that the variant itself was not a gene, but was possibly involved in gene regulation.
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