rs5743836

This study investigates the role of TLR9 rs187084 (T-1486C) polymorphism in pulmonary tuberculosis susceptibility. Functional analysis showed that the C allele increases TLR9 transcriptional activity and IP-10 production (a TB biomarker) but decreases protective cytokines IFN-γ and TNF-α. Genotype analysis of three Central Indian tribes revealed the C allele frequency was significantly lower in the TB-resistant Baiga tribe (18%) compared to Gond and Korku tribes (41-42%), supporting rs187084 as a potential TB susceptibility variant.

Case-control study examining the TLR9 C→T (rs352140) polymorphism in 254 Polish SLE patients and 521 controls. While the polymorphism was not associated with overall SLE risk (OR=1.414, p=0.0598), the T/T and T/C genotypes showed significant associations with renal disease (OR=2.949, p=0.001), immunologic disorders (OR=2.938, p=0.0012), and anti-dsDNA antibodies (OR=3.682, p=0.001) in SLE patients.

A systematic literature review examining the association between toll-like receptor (TLR) single nucleotide polymorphisms and susceptibility to hepatitis B virus (HBV) and hepatitis C virus (HCV) infection, including disease progression to liver cirrhosis and hepatocellular carcinoma. The review identifies polymorphisms in TLR2, TLR3, TLR4, TLR5, TLR7, TLR8, and TLR9 genes that affect viral susceptibility and disease outcomes, with mechanisms involving altered gene expression and immune signaling.

Case-control study of 167 Chinese SLE patients and 211 controls in Taiwan examining TLR9 gene polymorphisms. The TLR9 -1486 T/C (rs187084) polymorphism was significantly associated with SLE susceptibility (P < 0.001, OR = 2.23 for T allele), whereas rs2066807 showed no significant association. No associations were found between either TLR9 polymorphism and clinical severity or manifestations.

This case-control association study of 557 Han Chinese trauma patients identified TLR9 gene polymorphisms rs187084 and rs352162 as significantly associated with increased sepsis morbidity (OR 1.36 and 1.40 respectively) and multiple organ dysfunction after major blunt trauma. Both SNPs were associated with elevated TNFα production by peripheral blood leucocytes in response to bacterial DNA stimulation, suggesting functional significance in TLR9-mediated immune activation.