title: Genetic polymorphisms of IFNG and IFNGR1 in association with the risk of pulmonary tuberculosis.
abstract: OBJECTIVE
  Genetic host factors play an important role in controlling individual's susceptibility to the pathogen. This study aims to explore the single and joint effect of genetic polymorphisms of interferon-gamma (IFNG) and its receptor (IFNGR1) in association with the pulmonary tuberculosis in a Chinese Han population.
  
  
  METHODS
  This population-based case control study consisted of 1434 pulmonary tuberculosis patients and 1412 healthy controls. Six tag SNPs in IFNG/IFNGR1 were genotyped using TaqMan allelic discrimination technology. The logistic regression model was carried out to analyze the associations between the genotypes and haplotypes and the risk of tuberculosis by calculating the odds ratio (OR) and 95% confidence interval (CI).
  
  
  RESULTS
  After the Bonferroni correction for multiple comparisons, three SNPs (rs2234711, rs1327475 and rs7749390) in IFNGR1 gene were observed to be significantly associated with the altered risks of tuberculosis. For the SNP rs2234711, individuals carrying C allele (vs. T) showed a decreased risk, with the adjusted OR(95% CI) of 0.82(0.76-0.91). The additive model revealed that each additional allele contributed about 14% decreased risk (OR: 0.86, 95% CI: 0.77-0.95). Moreover, we observed a strong linkage disequilibrium between rs2234711 and rs3799488. Compared with the common rs2234711C-rs3799488C haplotype, the haplotype rs2234711T-rs3799488C contributed to a significant increase in the risk of tuberculosis (adjusted OR: 1.24, 95% CI: 1.09-1.41).
  
  
  CONCLUSIONS
  Our results suggest that genetic polymorphisms in IFNGR1 gene are involved in the risk of tuberculosis in the Chinese population. Future studies should include a comprehensive sequencing analysis to identify the specific causative sequence variants underlying the observed associations.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Jieqiong
authors.initials: J
authors.lastname: Lü
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China; Department of Tuberculosis, Third Hospital of Zhenjiang City, Zhenjiang 212005, PR China.
authors.forename: Hongqiu
authors.initials: H
authors.lastname: Pan
authors.affiliation: Department of Tuberculosis, Third Hospital of Zhenjiang City, Zhenjiang 212005, PR China.
authors.forename: Yongzhong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Shaowen
authors.initials: S
authors.lastname: Tang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Feng
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Sangsang
authors.initials: S
authors.lastname: Qiu
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Siming
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Liang
authors.initials: L
authors.lastname: Wu
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Ruobing
authors.initials: R
authors.lastname: Xu
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, PR China.
authors.forename: Xianzhen
authors.initials: X
authors.lastname: Peng
authors.affiliation: Department of Tuberculosis, Third Hospital of Zhenjiang City, Zhenjiang 212005, PR China. Electronic address: jmwang@njmu.edu.cn.
authors.forename: Jianming
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Breast, Nanjing Maternity and Child Health Hospital of Nanjing Medical University, Nanjing 210004, PR China. Electronic address: lucheng66@126.com.
authors.forename: Cheng
authors.initials: C
authors.lastname: Lu
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017471:Receptors, Interferon / Q000235:genetics*; D012307:Risk Factors; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor; C573415:IFNG protein, human
keywords: Genetic polymorphisms; Immunity; Infection; Susceptibility; Tuberculosis