A Functional Promoter Polymorphism of IFITM3 Is Associated with Susceptibility to Pediatric Tuberculosis in Han Chinese Population

被引：22

作者：

Shen, Chen ^{[1
,2
]}

Wu, Xi-rong ^{[1
,2
]}

Jiao, Wei-wei ^{[1
,2
]}

Sun, Lin ^{[1
,2
]}

Feng, Wei-xing ^{[1
,2
]}

Xiao, Jing ^{[1
,2
]}

Miao, Qing ^{[1
,2
]}

Liu, Fang ^{[1
,2
]}

Yin, Qing-qin ^{[1
,2
]}

Zhang, Chen-guang ^{[3
]}

Guo, Ya-jie ^{[1
,2
]}

Shen, A-dong ^{[1
,2
]}

机构：

[1] Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Key Lab Major Dis Children,Minist Educ, Beijing, Peoples R China

[2] Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Natl Key Discipline Pediat,Minist Educ, Beijing, Peoples R China

[3] Capital Med Univ, Dept Cell Biol, Beijing, Peoples R China

来源：

PLOS ONE | 2013年 / 8卷 / 07期

基金：

北京市自然科学基金; 中国国家自然科学基金;

关键词：

WEST NILE VIRUS; GENETIC SUSCEPTIBILITY; COLON-CANCER; EXPRESSION; IDENTIFICATION; INFECTION; PROTEINS; CHILDREN; CELLS;

D O I：

10.1371/journal.pone.0067816

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：7

共 36 条

[1] Tuberculosis in children and adults:: two distinct genetic diseases [J].