title: Potential association of pulmonary tuberculosis with genetic polymorphisms of toll-like receptor 9 and interferon-gamma in a Chinese population.
abstract: BACKGROUND
  Association studies have been employed to investigate the relationships between host single nucleotide polymorphisms (SNPs) and susceptibility to pulmonary Tuberculosis (PTB). However, such candidate genetic markers have not been widely studied in Chinese population, especially with respect to the disease development from latent M. tuberculosis infection (LTBI).
  
  
  METHODS
  In this case-control study, 44 candidate SNPs were examined in a total of 600 participants (PTB patients, LTBI controls and healthy controls without M. tuberculosis infection) from Zhengzhou, China. The two groups of controls were frequency matched on gender and age with PTB patients. Genotyping was carried out by the Illumina Golden Gate assay.
  
  
  RESULTS
  When comparing PTB patients with LTBI controls but not healthy controls without M. tuberculosis infection, significant associations with disease development were observed for TLR9 1174 A/G, TLR9 1635 A/G and IFNG 2109G/A. The two loci in TLR9 were in LD in our study population (r(2)=0.96, D'=1.00). A combined effect of the genotypes associated with increased risk of PTB (i.e. TLR9 1174G/G and IFNG 2109 A/A) was found when comparing PTB patients with LTBI controls (p=0.004) but not with healthy controls without infection (p=0.433).
  
  
  CONCLUSIONS
  Potential associations between TLR9 and IFN-γ genetic polymorphisms and PTB were observed in a Chinese population which supports further study of the roles played by TLR9/IFN-γ pathway during the development of PTB.
authors.forename: Yu
authors.initials: Y
authors.lastname: Yang
authors.forename: Xiangwei
authors.initials: X
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Cui
authors.forename: Ling
authors.initials: L
authors.lastname: Guan
authors.forename: Fei
authors.initials: F
authors.lastname: Shen
authors.forename: Jinsheng
authors.initials: J
authors.lastname: Xu
authors.forename: Feng
authors.initials: F
authors.lastname: Zhou
authors.forename: Mufei
authors.initials: M
authors.lastname: Li
authors.forename: Cong
authors.initials: C
authors.lastname: Gao
authors.forename: Qi
authors.initials: Q
authors.lastname: Jin
authors.affiliation: MOH Key Laboratory of Systems Biology of Pathogens, Institute of Pathogen Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. liujianmin99@126.com.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Liu
authors.forename: Lei
authors.initials: L
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D055985:Latent Tuberculosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009169:Mycobacterium tuberculosis; D020641:Polymorphism, Single Nucleotide; D051217:Toll-Like Receptor 9 / Q000235:genetics*; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: C495371:TLR9 protein, human; D051217:Toll-Like Receptor 9; D007371:Interferon-gamma