rs7873784

This is a 3 prime utr variant variant in the TLR4 gene.

ClinVar annotation

Benign★★★
2 submitters1 publication
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Research that mentions this SNP (3)

Association of TLR4 gene non-missense single nucleotide polymorphisms with rheumatoid arthritis in Chinese Han population
AssociationN=460Hongju Yang et al.(2013)· Rheumatology International

This case-control association study examined four TLR4 non-missense SNPs in 213 Chinese Han RA patients versus 247 controls. The 3' UTR SNP rs41426344 showed significant association with rheumatoid arthritis (C allele: OR=5.22, P=0.001; CC genotype: OR=3.94, P=0.009), as did rs7873784 (C allele: OR=1.54, P=0.028). Haplotype analysis identified H11 (CCGG) as protective and H5/H13 as risk haplotypes. The study demonstrates ethnic-specific allele frequency variation and suggests regulatory region polymorphisms play a role in RA susceptibility.

Traits studied:Rheumatoid arthritis
Sequence variants of toll-like receptor 4 (TLR4) and the risk of prostate cancer in Korean men
AssociationN=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.

Traits studied:Prostate cancer
Association of IL10 and Other immune response‐ and obesity‐related genes with prostate cancer in CLUE II
AssociationN=516Ming‐Hsi Wang et al.(2009)· The Prostate

Nested case-control study of 258 prostate cancer cases and 258 matched controls in the CLUE II prospective cohort examining genetic variants in inflammation and obesity-related genes. The IL10 -1082G>A variant (rs1800896, A allele) was positively associated with prostate cancer risk (AG vs GG: OR=1.69, 95% CI 1.10-2.60; AA vs GG: OR=1.81, 95% CI 1.11-2.96), while a TLR4 variant (rs4986790) showed inverse association, and no consistent associations were found for obesity-related gene variants.

Traits studied: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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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