rs10759932

This case-control association study examined four TLR4 non-missense SNPs in 213 Chinese Han RA patients versus 247 controls. The 3' UTR SNP rs41426344 showed significant association with rheumatoid arthritis (C allele: OR=5.22, P=0.001; CC genotype: OR=3.94, P=0.009), as did rs7873784 (C allele: OR=1.54, P=0.028). Haplotype analysis identified H11 (CCGG) as protective and H5/H13 as risk haplotypes. The study demonstrates ethnic-specific allele frequency variation and suggests regulatory region polymorphisms play a role in RA susceptibility.

This case-control study evaluated 1,429 SNPs in innate immunity and inflammation genes in 378 lung cancer cases and 450 controls from the PLCO Cancer Screening Trial. The main finding was a significant association between rs4648127 (NFKB1) and reduced lung cancer risk (OR=0.56, 95% CI 0.37-0.86 in PLCO; OR=0.79, 95% CI 0.69-0.90 in replication GWAS), implicating inflammation in lung cancer etiology.

Population-based case-control study examining genetic variation in toll-like receptor genes (TLR2, TLR3, TLR4) and colon/rectal cancer risk and survival. TLR3 rs11721827 was associated with rectal cancer (OR 1.27, 95% CI 1.02-1.58), while TLR3 rs3775292 and TLR4 rs11536898 were associated with colon cancer (OR 0.68 and 0.50, respectively). Significant interactions were observed with NSAID use, smoking, and dietary factors. TLR2 rs5743704 and rs5743708 were associated with worse colon cancer survival (HRR 1.89 and 1.74, respectively).

A case-control study of 463 Korean men (240 prostate cancer patients, 223 controls) examined 11 TLR4 gene polymorphisms for association with prostate cancer risk. The study found rs11536889 (a 3' UTR variant) was significantly associated with increased prostate cancer risk (OR=1.81, P=0.005), and the haplotype ht2 also showed significant association (OR=1.77, P=0.009). These findings suggest TLR4 polymorphisms may alter susceptibility to prostate cancer.

This study examined associations between polymorphisms in 454 Toll-like receptor (TLR) and related signaling gene SNPs and measles vaccine-specific immune responses in 764 subjects. The major allele of TLR2 rs3804100 was associated with increased antibody response (660 vs. 892 mIU/ml, p=0.002), while TLR4 rs5030710 showed decreased response (2,209 vs. 830 mIU/ml, p=0.001). A MAP3K7 haplotype was associated with lower antibody levels (p=0.01), and TLR-related SNPs including rs3748022 (IKBKE Pro713Leu), rs1786704 (TIRAP), rs702966 (KIAA1542/IRF7), and others were associated with variations in measles-specific cytokine responses (IL-2, IL-6, IL-10, IFNα, IFNγ, IFNλ-1, TNFα).