Progress in research on the genetic predisposition to tuberculosis and its clinical application_West China Medical Journal

Authors：

LI Tao ,  LU Shuihua

Division of Tuberculosis, Shanghai Public Health Clinical Center, Shanghai 201508, P. R. China;

Corresponding?author：

LU Shuihua, Email: tubercle@shaphc.org

Keywords：

Tuberculosis; Susceptibility; Gene polymorphism

DOI：

10.7507/1002-0179.201808041

Video：

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Tuberculosis remains a major public health problem. Genetic epidemiological studies have shown that the differences in host genes partly determine the susceptibility to tuberculosis. The occurrence of tuberculosis is the result of the joint action of Mycobacterium tuberculosis and host gene regulation immune response. The study of susceptibility candidate genes has differences in race, population and region, and the study of susceptibility gene polymorphism still has a long way to go in clinical precision diagnosis and treatment. The study and clinical application of mendelian susceptibility to mycobacterial disease can be used as a classic application of precision medical treatment in tuberculosis; although it is a rare case, this model is worthy of reference.

Citation： LI Tao, LU Shuihua. Progress in research on the genetic predisposition to tuberculosis and its clinical application. West China Medical Journal, 2018, 33(8): 939-942. doi: 10.7507/1002-0179.201808041 Copy

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9.	Naviglio S, Soncini E, Vairo DA, et al. Long-term survival after hematopoietic stem cell transplantation for complete STAT1 deficiency. J Clin Immunol, 2017, 37(7): 701-706.
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11.	Yim JJ, Selvaraj P. Genetic susceptibility in tuberculosis. Respirology, 2010, 15(2): 241-256.
12.	Wilkinson RJ, Llewelyn M, Toossi Z, et al. Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in West London: a case-control study. Lancet, 2000, 355(924): 618-621.
13.	熊坤龍, 張文宏, 王菲菲, 等. IL-22 基因多態性與中國人群肺結核易感性的相關性研究. 微生物與感染, 2018, 13(2): 70-76.
14.	丁光貴, 張國良, 陳心春, 等. 白細胞介素 IL-22 基因單核苷酸多態性與肺結核易感性的相關性研究. 中華結核和呼吸雜志, 2012, 35(8): 596-600.
15.	Zhang X, Bogunovic D, Payelle-Brogard B, et al. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature, 2015, 517(7532): 89-93.
16.	Salinas-Delgado Y, Galaviz-herna?ndez C, Toral RG, et al. The D543N polymorphism of the SLC11A1/ NRAMP1 gene is associated with treatment failure in male patients with pulmonary tuberculosis. Drug Metab Pers Ther, 2015, 30(3): 211-214.

1. World Health Organization. Global health estimates 2016: deaths by cause, age, sex, by country and by region, 2000-2016. Geneva: World Health Organization, 2018.
2. Bloom BR, Small PM. The evolving relation between humans and Mycobacterium tuberculosis. N Engl J Med, 1998, 338(10): 677-678.
3. Kallmann FJ, Reisner D. Twin studies on the significance of genetic factors intuberculosis. Am Rev Tuberc, 1943, 47: 549-574.
4. Milano M, Moraes MO, Rodenbusch R, et al. Single nucleotide polymorphisms in IL17A and IL6 are associated with decreased risk for pulmonary tuberculosis in Southern Brazilian Population. PLoS One, 2016, 11(2): e0147814.
5. Dupuis S, D?ffinger R, Picard C, et al. Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev, 2000, 178: 129-137.
6. Salem S, Langlais D, Lefebvre F, et al. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8^K108E mutation. Blood, 2014, 124(12): 1894-1904.
7. Hambleton S, Salem S, Bustamante J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med, 2011, 365(2): 127-138.
8. Bogunovic D, Byun M, Durfee LA, et al. Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science, 2012, 337(6102): 1684-1688.
9. Naviglio S, Soncini E, Vairo DA, et al. Long-term survival after hematopoietic stem cell transplantation for complete STAT1 deficiency. J Clin Immunol, 2017, 37(7): 701-706.
10. Comstock GW. Tuberculosis in twins: a re-analysis of prophit survey. Am Rev Respir Dis, 1978, 117(4): 621-624.
11. Yim JJ, Selvaraj P. Genetic susceptibility in tuberculosis. Respirology, 2010, 15(2): 241-256.
12. Wilkinson RJ, Llewelyn M, Toossi Z, et al. Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in West London: a case-control study. Lancet, 2000, 355(924): 618-621.
13. 熊坤龍, 張文宏, 王菲菲, 等. IL-22 基因多態性與中國人群肺結核易感性的相關性研究. 微生物與感染, 2018, 13(2): 70-76.
14. 丁光貴, 張國良, 陳心春, 等. 白細胞介素 IL-22 基因單核苷酸多態性與肺結核易感性的相關性研究. 中華結核和呼吸雜志, 2012, 35(8): 596-600.
15. Zhang X, Bogunovic D, Payelle-Brogard B, et al. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature, 2015, 517(7532): 89-93.
16. Salinas-Delgado Y, Galaviz-herna?ndez C, Toral RG, et al. The D543N polymorphism of the SLC11A1/ NRAMP1 gene is associated with treatment failure in male patients with pulmonary tuberculosis. Drug Metab Pers Ther, 2015, 30(3): 211-214.

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