rs10004195
This is a regulatory region variant variant in the TLR10 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
defense response to other organism process attribute
▶Research that mentions this SNP (3)
▶Identification of Genetic Loci Associated With Helicobacter pylori Serologic StatusAssociationN=10,938Julia Mayerle et al.(2013)· JAMA
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.
▶Host immune gene polymorphisms were associated with the prognosis of non‐small‐cell lung cancer in ChineseAssociationN=568Juncheng Dai et al.(2012)· International Journal of Cancer
A prospective study of 568 Chinese non-small-cell lung cancer (NSCLC) patients found that four immune gene polymorphisms were independently associated with survival: IL-5R rs11713419 (5'-UTR, P=0.001), IL23R rs6682925 (5'-FR, P=0.017), TLR1 rs5743551 (5'-FR, P=0.02), and TLR3 rs3775291 (Leu412Phe, P=0.01). Patients carrying 1 unfavorable locus had 124% increased mortality risk (HR=2.24, 95% CI: 1.33-3.75), and those with 2-4 unfavorable loci had 175% increased risk (HR=2.75, 95% CI: 1.67-4.51). Combined SNP and clinical risk score model achieved 5-year AUC of 0.831 versus 0.484 for clinical factors alone.
▶Association between toll-like receptor 10 (TLR10) gene polymorphisms and childhood IgA nephropathyAssociationN=488Hae Jeong Park et al.(2011)· European Journal of Pediatrics
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.
About TLR10
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
View all TLR10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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