Genetic resistance to Mycobacterium Tuberculosis infection and disease

dc.contributor.authorMoller, Marloen_ZA
dc.contributor.authorKinnear, Craig J.en_ZA
dc.contributor.authorOrlova, Mariannaen_ZA
dc.contributor.authorKroon, Elouise E.en_ZA
dc.contributor.authorvan Helden, Paul D.en_ZA
dc.contributor.authorSchurr, Erwinen_ZA
dc.contributor.authorHoal, Eileen G.en_ZA
dc.contributor.otherBiomedical Sciences: Molecular Biology and Human Geneticsen_ZA
dc.descriptionCITATION: Möller, M. et al. 2018. Genetic resistance to Mycobacterium tuberculosis infection and disease. Frontier in Immunology, 9:2219, 1-13. doi:10.3389/fimmu.2018.02219.en_ZA
dc.descriptionThe original publication is available from
dc.description.abstractNatural history studies of tuberculosis (TB) have revealed a spectrum of clinical outcomes after exposure to Mycobacterium tuberculosis, the cause of TB. Not all individuals exposed to the bacteriumwill become diseased and depending on the infection pressure, many will remain infection-free. Intriguingly, complete resistance to infection is observed in some individuals (termed resisters) after intense, continuing M. tuberculosis exposure. After successful infection, the majority of individuals will develop latent TB infection (LTBI). This infection state is currently (and perhaps imperfectly) defined by the presence of a positive tuberculin skin test (TST) and/or interferon gamma release assay (IGRA), but no detectable clinical disease symptoms. The majority of healthy individuals with LTBI are resistant to clinical TB, indicating that infection is remarkably well-contained in these non-progressors. The remaining 5–15% of LTBI positive individuals will progress to active TB. Epidemiological investigations have indicated that the host genetic component contributes to these infection and disease phenotypes, influencing both susceptibility and resistance. Elucidating these genetic correlates is therefore a priority as it may translate to new interventions to prevent, diagnose or treat TB. The most successful approaches in resistance/susceptibility investigation have focused on specific infection and disease phenotypes and the resister phenotype may hold the key to the discovery of actionable genetic variants in TB infection and disease. This review will not only discuss lessons from epidemiological studies, but will also focus on the contribution of epidemiology and functional genetics to human genetic resistance to M. tuberculosis infection and disease.en_ZA
dc.description.versionPublished review articleen_ZA
dc.description.versionPublishers versionen_ZA
dc.format.extent13 pages
dc.identifier.citationMöller, M. Kinnear, C.J., Orlova, M., Kroon, E.E., Van Helden, P.D., Schurr, E. & Hoal, E.G. 2018. Genetic resistance to Mycobacterium tuberculosis infection and disease. Frontier in Immunology, 9:2219,1-13. doi:10.3389/fimmu.2018.02219.en_ZA
dc.identifier.issn116-3224 (online)
dc.publisherFrontiers Mediaen_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subjecthost geneticsen_ZA
dc.titleGenetic resistance to Mycobacterium Tuberculosis infection and diseaseen_ZA
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