rs3775290
This is a synonymous variant in the TLR3 gene — it does not change the protein's amino acid sequence.
▶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.
level of Ras-related protein Rab-6A in blood
▶ClinVar annotation
Herpes simplex encephalitis, susceptibility to, 1 (IIAE1); not specified
View on ClinVar →▶Research that mentions this SNP (5)
▶Correlation between TLR2,TLR3,TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among the newbornsAssociationN=275Xiao Qiu et al.(2018)· Journal of Clinical Laboratory Analysis
This case-control study investigated the association between TLR2, TLR3, TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among 135 newborn cases and 140 healthy controls of Chinese Han ethnicity. Certain SNPs were associated with disease risk and prognosis, including rs1898830 (TLR2; OR=0.38 for favorable prognosis in AG carriers), rs1879026 (TLR3; OR=0.29 for GT carriers), and rs187084 and rs352139 (TLR9). The haplotype A-C-G-G-C-A-T showed increased susceptibility (OR=4.11), while this haplotype was associated with favorable prognosis when present.
▶Association of a functional polymorphism in the promoter region of TLR‐3 with osteoarthritis: A two‐stage case–control studyAssociationN=292Hsin‐Yi Yang et al.(2013)· Journal of Orthopaedic Research
Case-control study of 292 Colombian subjects (191 dengue cases, 101 controls) evaluating associations between dengue susceptibility and polymorphisms in IL6R (rs8192284), TLR3 (rs3775290), and DC-SIGN (rs7248637). In Afro-Colombians, the C allele of rs8192284 was protective (OR=0.425, p=0.020), while the A alleles of rs7248637 and rs3775290 increased risk (OR=2.389, p=0.015 and OR=2.329, p=0.005 in Mestizos). The CAG allelic combination remained significantly associated with dengue after Amerindian ancestry adjustment (OR=2.16, p=0.028).
▶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.
▶The investigation of toll-like receptor 3, 9 and 10 gene polymorphisms in Turkish rheumatoid arthritis patientsAssociationN=200Ebru Onalan Etem et al.(2011)· Rheumatology International
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.
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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