rs4129009

GWAS meta-analysis of 10,938 participants identified two genome-wide significant loci associated with Helicobacter pylori seroprevalence: the TLR1 locus at 4p14 (rs10004195, OR=0.70, P=1.4×10^-18) and the FCGR2A locus at 1q23.3 (rs368433, OR=0.73, P=2.1×10^-8). Whole-blood transcriptome analysis revealed that rs10004195 is associated with differential expression of TLR1 (β=-0.23, P=2.1×10^-4), and individuals with high fecal H. pylori antigen titers exhibited elevated TLR1 expression levels.

This case-control study of 100 Turkish rheumatoid arthritis (RA) patients and 100 healthy controls investigated associations between toll-like receptor (TLR) gene polymorphisms and RA risk. The TLR9 rs187084 (-1237 T/C) TT genotype was significantly associated with increased RA risk (p = 0.013, χ² = 8.698), and TT allele frequency was higher in patients versus controls (p = 0.003). No significant associations were found for TLR3 rs3775290 or TLR10 rs4129009 polymorphisms with RA or autoantibody production.

This case-control study examined the association between TLR10 gene polymorphisms and immunoglobulin A nephropathy (IgAN) in 199 Korean children and 289 controls. The rs10004195 promoter SNP was significantly associated with IgAN in both codominant (p=0.016 for TA; p=0.044 for AA) and dominant models (p=0.0068, OR=1.98, 95% CI=1.28-3.06 for A allele carriers), with the A allele significantly increasing IgAN risk. Higher proteinuria levels were observed in IgAN patients carrying the A allele of rs10004195 (4.01 vs 2.00 mg/m²/h, p=0.033). Three other missense SNPs (rs11096957, rs11096955, rs4129009) showed no significant association with IgAN.