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Pulmonary tuberculosis (TB) caused by  Mycobacterium tuberculosis  ( Mtb ) is a global public health concern. Although inflammasome and the toll-like receptor 2 ( TLR2 ) genes play an important role in host defense against  Mtb , the associations of polymorphisms in these genes with TB risk are incompletely understood. A total of 230 TB patients and 213 individuals without TB were enrolled in this study. A significant difference in the frequencies of different  AIM2  rs2276405 genotypes between the non-TB and TB groups was detected. When the patients were stratified by gender or age, significant differences in genotype frequencies at  NLRP3  rs34298354 in men and in non-aged (≤65-year-old) subjects and at  IFI16  rs1772408 in women were found. OR analysis showed that the TC rs34298354 genotype in  NLRP3  was associated with reduced risk of TB. In women, the AG rs1772408 genotype in  IFI16  was associated with decreased TB risk. Haplotype analysis showed that, in comparison with the most common haplotype (T-T) of rs3804099-rs3804100 in the  TLR2  gene, the C-T haplotype was associated with an increased risk for TB. Our study indicates that rs34298354 in  NLRP3  and rs1772408 in  IFI16  protect individuals from TB, and that the less common  TLR2  haplotype is associated with increased TB susceptibility.

The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population