rs3775296
This is a splice region variant variant in the TLR3 gene.
▶ClinVar annotation
Herpes simplex encephalitis, susceptibility to, 1 (IIAE1); not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶The toll‐like receptor 2 (TLR2) ‐196 to ‐174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis CReviewHans‐Dieter Nischalke et al.(2012)· International Journal of Cancer
A systematic literature review examining the association between toll-like receptor (TLR) single nucleotide polymorphisms and susceptibility to hepatitis B virus (HBV) and hepatitis C virus (HCV) infection, including disease progression to liver cirrhosis and hepatocellular carcinoma. The review identifies polymorphisms in TLR2, TLR3, TLR4, TLR5, TLR7, TLR8, and TLR9 genes that affect viral susceptibility and disease outcomes, with mechanisms involving altered gene expression and immune signaling.
▶Confirmation of an association between single nucleotide polymorphisms in the VDR gene with respiratory syncytial virus related disease in South African ChildrenReviewKresfelder TL et al.(2011)· Journal of Medical Virology
This comprehensive review examines genetic polymorphisms in innate immune response genes that influence susceptibility to respiratory syncytial virus (RSV) infection and disease severity in children. The paper discusses key genes including TLR2, TLR3, TLR4, RIG-I, IL-8, RANTES/CCL5, NF-κB, AP-1, and vitamin D receptor (VDR), highlighting how SNPs such as TLR4 Asp299Gly and Thr399Ile, RANTES -28C/G, IL-8 -251T, and VDR FokI polymorphisms are associated with increased RSV susceptibility or protection in pediatric populations.
▶Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genesAssociationN=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.
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]
View all TLR3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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