rs12377632
This variant is located in the TLR4 gene.
▶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.
▶Toll‐like receptor genes and their association with colon and rectal cancer development and prognosisAssociationN=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).
▶Sequence variants of toll-like receptor 4 (TLR4) and the risk of prostate cancer in Korean menAssociationN=463Hae Jong Kim et al.(2012)· World Journal of Urology
A case-control study of 463 Korean men (240 prostate cancer patients, 223 controls) examined 11 TLR4 gene polymorphisms for association with prostate cancer risk. The study found rs11536889 (a 3' UTR variant) was significantly associated with increased prostate cancer risk (OR=1.81, P=0.005), and the haplotype ht2 also showed significant association (OR=1.77, P=0.009). These findings suggest TLR4 polymorphisms may alter susceptibility to prostate cancer.
About TLR4
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 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. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
View all TLR4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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