rs11721827

This variant is located in the TLR3 gene.

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Research that mentions this SNP (2)

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Toll‐like receptor genes and their association with colon and rectal cancer development and prognosis
AssociationN=6,174Martha L. Slattery et al.(2012)· International Journal of Cancer

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).

Traits studied:Colon cancerRectal cancer
PubMedDOIMetascience Observatory
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Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes
AssociationN=714Inna G. Ovsyannikova et al.(2010)· Human Genetics

A candidate gene association study of 714 healthy children examined associations between 148 SNPs in innate immunity genes (TLR, vitamin A and D receptors, RIG-I pathway, TRIM factors) and rubella vaccine-induced cytokine responses. Twenty-two significant associations (P = 0.002–0.048) were found, including rs3740996 (His43Tyr) and rs10838525 (Gln136Arg) in TRIM5 with TNFα and IL-2/GM-CSF responses, and rs5743305 in TLR3 with GM-CSF secretion.

Traits studied:Rubella vaccine-induced cytokine responseRubella virus-specific GM-CSF secretionRubella virus-specific IFNγ secretionRubella virus-specific IL-10 secretionRubella virus-specific IL-12p40 secretionRubella virus-specific IL-2 secretionRubella virus-specific IL-4 secretionRubella virus-specific IL-5 secretionRubella virus-specific IL-6 secretionRubella virus-specific TNFα secretion
PubMedDOIMetascience Observatory

About TLR3

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 receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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