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Lancet Infect Dis. 2018 Mar;18(3):e64-e75. doi: 10.1016/S1473-3099(17)30623-0. Epub 2017 Oct 27.

Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives.

Author information

1
Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York City, NY, USA.
2
School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
3
Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Internal Medicine, Meharry Medical College, Nashville, TN, USA.
4
McGill International TB Centre, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
5
Center for Tuberculosis Research, Department of Medicine Division of Infectious Diseases, Johns Hopkins School of Medicine, Baltimore, MD, USA.
6
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
7
Center for Tuberculosis Research, Department of Medicine Division of Infectious Diseases, Johns Hopkins School of Medicine, Baltimore, MD, USA. Electronic address: wbishai1@jhmi.edu.

Abstract

Tuberculosis is an ancient human disease, estimated to have originated and evolved over thousands of years alongside modern human populations. Despite considerable advances in disease control, tuberculosis remains one of the world's deadliest communicable diseases with 10 million incident cases and 1·8 million deaths in 2015 alone based on the annual WHO report, due to inadequate health service resources in less-developed regions of the world, and exacerbated by the HIV/AIDS pandemic and emergence of multidrug-resistant strains of Mycobacterium tuberculosis. Recent findings from studies of tuberculosis infection and of patients with Mendelian predisposition to severe tuberculosis have started to reveal human loci influencing tuberculosis outcomes. In this Review, we assess the current understanding of the contribution of host genetics to disease susceptibility and to drug treatment. Despite remarkable progress in technology, only a few associated genetic variants have so far been identified, strongly indicating the need for larger global studies that investigate both common and under-represented rare variants to develop new approaches to combat the disease. Pharmacogenomic discoveries are also likely to lead to more efficient drug design and development, and ultimately safer and more effective therapies for tuberculosis.

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