A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population.
A susceptibility locus for tuberculosis, a re-emerging infectious disease throughout the world, was previously discovered to exist on chromosome 11p15. IFITM3 gene encoding for interferon inducible transmembrane protein 3, is located at 11p15. It acts as an effector molecule for interferon-gamma, wh...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3706438?pdf=render |
| _version_ | 1818510167373774848 |
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| author | Chen Shen Xi-rong Wu Wei-wei Jiao Lin Sun Wei-xing Feng Jing Xiao Qing Miao Fang Liu Qing-qin Yin Chen-guang Zhang Ya-jie Guo A-dong Shen |
| author_facet | Chen Shen Xi-rong Wu Wei-wei Jiao Lin Sun Wei-xing Feng Jing Xiao Qing Miao Fang Liu Qing-qin Yin Chen-guang Zhang Ya-jie Guo A-dong Shen |
| author_sort | Chen Shen |
| collection | DOAJ |
| description | A susceptibility locus for tuberculosis, a re-emerging infectious disease throughout the world, was previously discovered to exist on chromosome 11p15. IFITM3 gene encoding for interferon inducible transmembrane protein 3, is located at 11p15. It acts as an effector molecule for interferon-gamma, which is essential for anti-tuberculosis immune response. In order to investigate the association between susceptibility to TB and genetic polymorphisms of the IFITM3 core promoter, a case-control study including 368 TB patients and 794 healthy controls was performed in Han Chinese children in northern China. The rs3888188 polymorphism showed significant association with susceptibility to TB. The rs3888188 G allele, acting recessively, was more frequent in TB patients (95% confidence interval: 1.08-1.56, Bonferroni P-value: 0.039). We further assessed the effect of rs3888188 polymorphism on IFITM3 transcription in vitro. As based on luciferase promoter assays, the promoter activity of haplotypes with rs3888188 G allele was lower than that of haplotypes with rs3888188 T allele. Moreover, peripheral-blood mononuclear cells carrying rs3888188 GG genotype showed a reduced IFITM3 mRNA level compared to cells carrying TT or GT genotype. In conclusion, rs3888188, a functional promoter polymorphism of IFITM3, was identified to influence the risk for pediatric TB in Han Chinese population. |
| first_indexed | 2024-12-10T22:55:29Z |
| format | Article |
| id | doaj.art-7f0dde572a70410f91375af479cba41d |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-10T22:55:29Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
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| series | PLoS ONE |
| spelling | doaj.art-7f0dde572a70410f91375af479cba41d2022-12-22T01:30:17ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0187e6781610.1371/journal.pone.0067816A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population.Chen ShenXi-rong WuWei-wei JiaoLin SunWei-xing FengJing XiaoQing MiaoFang LiuQing-qin YinChen-guang ZhangYa-jie GuoA-dong ShenA susceptibility locus for tuberculosis, a re-emerging infectious disease throughout the world, was previously discovered to exist on chromosome 11p15. IFITM3 gene encoding for interferon inducible transmembrane protein 3, is located at 11p15. It acts as an effector molecule for interferon-gamma, which is essential for anti-tuberculosis immune response. In order to investigate the association between susceptibility to TB and genetic polymorphisms of the IFITM3 core promoter, a case-control study including 368 TB patients and 794 healthy controls was performed in Han Chinese children in northern China. The rs3888188 polymorphism showed significant association with susceptibility to TB. The rs3888188 G allele, acting recessively, was more frequent in TB patients (95% confidence interval: 1.08-1.56, Bonferroni P-value: 0.039). We further assessed the effect of rs3888188 polymorphism on IFITM3 transcription in vitro. As based on luciferase promoter assays, the promoter activity of haplotypes with rs3888188 G allele was lower than that of haplotypes with rs3888188 T allele. Moreover, peripheral-blood mononuclear cells carrying rs3888188 GG genotype showed a reduced IFITM3 mRNA level compared to cells carrying TT or GT genotype. In conclusion, rs3888188, a functional promoter polymorphism of IFITM3, was identified to influence the risk for pediatric TB in Han Chinese population.http://europepmc.org/articles/PMC3706438?pdf=render |
| spellingShingle | Chen Shen Xi-rong Wu Wei-wei Jiao Lin Sun Wei-xing Feng Jing Xiao Qing Miao Fang Liu Qing-qin Yin Chen-guang Zhang Ya-jie Guo A-dong Shen A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population. PLoS ONE |
| title | A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population. |
| title_full | A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population. |
| title_fullStr | A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population. |
| title_full_unstemmed | A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population. |
| title_short | A functional promoter polymorphism of IFITM3 is associated with susceptibility to pediatric tuberculosis in Han Chinese population. |
| title_sort | functional promoter polymorphism of ifitm3 is associated with susceptibility to pediatric tuberculosis in han chinese population |
| url | http://europepmc.org/articles/PMC3706438?pdf=render |
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