rs11466655
This is a protein-altering variant in the TLR10 gene.
▶Research that mentions this SNP (1)
▶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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