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KMID : 1144820180240020094
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대한의생명과학회지
2018 Volume.24 No. 2 p.94 ~ p.101
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Association of Genetic Polymorphism of IL-2 Receptor Subunit and Tuberculosis Case
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Lee Sang-In
Jin Ga-Heon
Park Sang-Jung
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Abstract
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Tuberculosis (TB) is infectious disease caused by Mycobacterium tuberculosis (MTB) infection. It is known that not only the property of microorganism but also the genetic susceptibility of infected patients is controlled. Interleukin 2 (IL-2) is a cytokine belonging to type 1 T helper (Th1) activity. In addition, IL-2, when infected with MTB, binds IL-2 receptor and promotes T cell replication and is involved in granuloma formation. The aim of this study was to investigate the genetic polymorphisms of the IL-2 receptor gene in tuberculosis patients and normal individuals. We analyzed 22 SNPs in three genes using the genotype data of 443 tuberculosis cases and 3,228 healthy controls from the Korea Association Resource for their correlation with tuberculosis case. IL2RA, IL2RB, and IL2RG genes were genotyped of 16, 4, and 2 SNPs, respectively. Among three genes, only IL2RA gene polymorphisms showed statistically significant association with tuberculosis case. 6 SNPs with high significance were identified in the IL2RA gene. In addition, the linkage disequilibrium (LD) structure of IL2RA gene was confirmed. SNP imputation of IL2RA gene was performed, it was confirmed that more SNPs were significant between case and control. If we look at the results of IL2RA gene analysis above, we can see that genetic polymorphism in the gene expressing IL-2Rα will regulate the expression level of IL-2Rα, and the change in the immune system involved in IL-2Rα. In this study, genetic polymorphism that may affect host immunity suggests that susceptibility to tuberculosis may be controlled.
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KEYWORD
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IL2RA, Tuberculosis, Genetic association, Mycobacterium tuberculosis, SNP, Polymorphism
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