title: rs2243268 and rs2243274 of Interleukin-4 (IL-4) gene are associated with reduced risk for extrapulmonary and severe tuberculosis in Chinese Han children.
abstract: Interleukin-4 (IL-4) and IL-10, which are produced by Th2 cells, serve as anti-inflammatory cytokines in the immune responses to tuberculosis (TB). In order to investigate the association between susceptibility to TB and single-nucleotide polymorphisms (SNPs) of the IL-4 and IL-10 genes, a case-control study including 346 TB patients and 374 healthy controls was performed in Chinese Han children in North China. Though no significant differences in the allelic and genotypic distributions of SNPs of these two genes were observed between control group and TB group, rs2243268-A and rs2243274-G of the IL-4 gene were associated with reduced risk of developing extrapulmonary tuberculosis (EPTB) (Prs2243268=0.005 and Prs2243274=0.004) and severe TB (Prs2243268=0.003 and Prs2243274=0.003). The haplotype comprising rs2243268-A and rs2243274-G was found to be a resistance factor against EPTB and severe TB. In addition, after stimulation with inactivated H37Rv, blood samples of the rs2243268 AA+AC carriers showed significantly reduced IL-10 production (P=0.045) compared to the CC carriers. In conclusion, rs2243268-A and rs2243274-G of the IL-4 gene were found to confer resistance to EPTB and severe TB in Chinese Han children.
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Hui
authors: H
authors: Qi
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Lin
authors: L
authors: Sun
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Ya-Qiong
authors: YQ
authors: Jin
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Chen
authors: C
authors: Shen
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Ping
authors: P
authors: Chu
authors: Department of Epidemiology and Bio-statistics, School of Public Health, Peking University Health Science Center, Beijing 100191, China.
authors: Sheng-Feng
authors: SF
authors: Wang
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Qing-Qin
authors: QQ
authors: Yin
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Zhan
authors: Z
authors: Qi
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Fang
authors: F
authors: Xu
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Wei-Wei
authors: WW
authors: Jiao
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Xi-Rong
authors: XR
authors: Wu
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Jian-Ling
authors: JL
authors: Tian
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China.
authors: Jing
authors: J
authors: Xiao
authors: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56, Nan-li-shi Road, Beijing 100045, China. Electronic address: shenad16@hotmail.com.
authors: A-Dong
authors: AD
authors: Shen
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006867:Hydrolases / Q000276:immunology; D007223:Infant; D016753:Interleukin-10 / Q000235:genetics; D015847:Interleukin-4 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014376:Tuberculosis / Q000235:genetics* / Q000276:immunology*
chemical_list: C508609:IL10 protein, human; C508598:IL4 protein, human; D016753:Interleukin-10; D015847:Interleukin-4; D006867:Hydrolases; C527647:HsaD protein, Mycobacterium tuberculosis
keywords: Extrapulmonary tuberculosis; Interleukin-10; Interleukin-4; Polymorphism; Severe tuberculosis; Tuberculosis