rs12344353
This is a downstream gene variant variant in the TLR4 gene.
▶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.
prostate specific antigen amount
▶Research that mentions this SNP (1)
▶Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI StudyAssociationN=1,817Suzette J. Bielinski et al.(2011)· Human Genetics
This candidate gene study of 1,817 participants from the ARIC Carotid MRI cohort identified genetic variants associated with monocyte activation markers. TLR2 rs1816702 was associated with increased CD14+/TLR2+ monocyte levels in whites (p<0.001), while TLR4 rs5030719 was associated with CD14+/TLR4+ levels in blacks (p<0.001). MPO gene variants also showed modest associations with monocyte MPO levels, demonstrating population-specific genetic influences on immune cell surface receptor expression.
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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