Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.

Tuberculosis (TB) is the leading cause of death due to an infectious disease worldwide, particularly in developing countries. A series of candidate genes have been suggested to be associated with development of TB disease. Among them, the human Cytokine-inducible Src homology 2(SH2) domain protein (...

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Autores principales:	Lin Sun, Ya-qiong Jin, Chen Shen, Hui Qi, Ping Chu, Qing-qin Yin, Jie-qiong Li, Jian-ling Tian, Wei-wei Jiao, Jing Xiao, A-dong Shen
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/dfff30297e804524b16bf732a6eb00a9
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spelling	oai:doaj.org-article:dfff30297e804524b16bf732a6eb00a92021-11-18T08:28:04ZGenetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.1932-620310.1371/journal.pone.0092020https://doaj.org/article/dfff30297e804524b16bf732a6eb00a92014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24632804/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Tuberculosis (TB) is the leading cause of death due to an infectious disease worldwide, particularly in developing countries. A series of candidate genes have been suggested to be associated with development of TB disease. Among them, the human Cytokine-inducible Src homology 2(SH2) domain protein (CISH) gene has been very recently reported to be involved in T cell activation and differentiation in response to Mycobacterium tuberculosis infection. Here, we studied the association between CISH promoter polymorphisms and pediatric TB. A case-control study enrolled 352 TB patients and 527 healthy controls, who were of Han Chinese ethnicity and aged from 0.2 to 18 years. CISH gene promoter SNPs rs414171, rs622502 and rs809451 were genotyped in all subjects and transcriptional activity, mRNA level, and plasma cytokine level of subjects with different genotypes were further examined. Carriers with rs414171TT homozygotes and rs809451GC heterozygotes had a 1.78-fold (95% CI,1.16-2.74) and 1.86-fold (95% CI, 1.26-2.74) excess risk of developing TB compared to those with wild-type genotypes. A greater risk of TB disease was observed in population carrying C(-809451)-T(-414171)-C(-622502) haplotype (OR 3.66, 95% CI:2.12-6.32). The G(-809451)-A(-414171)-C(-622502)-containing CISH promoter drove a 5.43-fold increased reporter expression compared to the C(-809451)-T(-414171)-C(-622502)-containing counterpart in Hela cell lines (P = 0.0009). PBMCs carrying rs414171TT homozygotes and rs809451GC heterozygotes showed a reduced CISH mRNA level compared to cells carrying wild type genotypes. Individuals with the rs414171TT genotype had significantly increased IL-12p40 and IL-10 production. In conclusion, CISH promoter rs414171 and rs809451 polymorphisms may play a vital role in mediating individual susceptibility to tuberculosis.Lin SunYa-qiong JinChen ShenHui QiPing ChuQing-qin YinJie-qiong LiJian-ling TianWei-wei JiaoJing XiaoA-dong ShenPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 3, p e92020 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Lin Sun Ya-qiong Jin Chen Shen Hui Qi Ping Chu Qing-qin Yin Jie-qiong Li Jian-ling Tian Wei-wei Jiao Jing Xiao A-dong Shen Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.
description	Tuberculosis (TB) is the leading cause of death due to an infectious disease worldwide, particularly in developing countries. A series of candidate genes have been suggested to be associated with development of TB disease. Among them, the human Cytokine-inducible Src homology 2(SH2) domain protein (CISH) gene has been very recently reported to be involved in T cell activation and differentiation in response to Mycobacterium tuberculosis infection. Here, we studied the association between CISH promoter polymorphisms and pediatric TB. A case-control study enrolled 352 TB patients and 527 healthy controls, who were of Han Chinese ethnicity and aged from 0.2 to 18 years. CISH gene promoter SNPs rs414171, rs622502 and rs809451 were genotyped in all subjects and transcriptional activity, mRNA level, and plasma cytokine level of subjects with different genotypes were further examined. Carriers with rs414171TT homozygotes and rs809451GC heterozygotes had a 1.78-fold (95% CI,1.16-2.74) and 1.86-fold (95% CI, 1.26-2.74) excess risk of developing TB compared to those with wild-type genotypes. A greater risk of TB disease was observed in population carrying C(-809451)-T(-414171)-C(-622502) haplotype (OR 3.66, 95% CI:2.12-6.32). The G(-809451)-A(-414171)-C(-622502)-containing CISH promoter drove a 5.43-fold increased reporter expression compared to the C(-809451)-T(-414171)-C(-622502)-containing counterpart in Hela cell lines (P = 0.0009). PBMCs carrying rs414171TT homozygotes and rs809451GC heterozygotes showed a reduced CISH mRNA level compared to cells carrying wild type genotypes. Individuals with the rs414171TT genotype had significantly increased IL-12p40 and IL-10 production. In conclusion, CISH promoter rs414171 and rs809451 polymorphisms may play a vital role in mediating individual susceptibility to tuberculosis.
format	article
author	Lin Sun Ya-qiong Jin Chen Shen Hui Qi Ping Chu Qing-qin Yin Jie-qiong Li Jian-ling Tian Wei-wei Jiao Jing Xiao A-dong Shen
author_facet	Lin Sun Ya-qiong Jin Chen Shen Hui Qi Ping Chu Qing-qin Yin Jie-qiong Li Jian-ling Tian Wei-wei Jiao Jing Xiao A-dong Shen
author_sort	Lin Sun
title	Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.
title_short	Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.
title_full	Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.
title_fullStr	Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.
title_full_unstemmed	Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.
title_sort	genetic contribution of cish promoter polymorphisms to susceptibility to tuberculosis in chinese children.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/dfff30297e804524b16bf732a6eb00a9
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Genetic contribution of CISH promoter polymorphisms to susceptibility to tuberculosis in Chinese children.

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