rs1554973
This is a downstream gene variant variant in the TLR4 gene.
▶Research that mentions this SNP (2)
▶Brief Report: Enrichment of associations in genes with fibrosis, apoptosis, and innate immunity functions with cardiac manifestations of neonatal lupusAssociationN=3,467Paula S. Ramos et al.(2012)· Arthritis & Rheumatism
Pathway-based GWAS in 116 cardiac neonatal lupus children and 3,351 controls identified significant enrichment of genetic associations in genes related to fibrosis (P=2.27×10⁻⁹), apoptosis (P=7.67×10⁻⁷), and innate immunity (P=2.53×10⁻⁶). The strongest non-HLA associations were ST8SIA2 (rs1487982, OR=2.20), ITGA1 (rs2432143, OR=2.31), and CSMD1 (rs7002001, OR=2.41), implicating dysregulation of inflammatory and fibrotic pathways in cardiac manifestations of neonatal lupus.
▶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).
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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