rs10422141

This is a downstream gene variant variant in the TICAM1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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Correlation betweenTICAM1gene polymorphisms and community‐acquired pneumonia in children
AssociationN=681Yong Yang et al.(2020)· Journal of Biochemical and Molecular Toxicology

A case-control study of 375 Chinese children with community-acquired pneumonia (CAP) and 306 healthy controls examined 8 tag SNPs in the TICAM1 gene. The CC genotype of rs11466711 was protective against CAP (OR=0.557-0.568, P<0.05). The AA genotype of rs6510826 was associated with increased CRP levels (β=8.060-10.620, P<0.05), while the AA genotype of rs35747610 reduced sepsis risk (β=-0.427 to -0.428, P<0.05). The haplotype CCCG was protective against CAP, severe pneumonia, and sepsis (all P<0.05).

Traits studied:C-reactive protein (CRP) levelCAP severityCommunity-acquired pneumoniaSepsisSevere community-acquired pneumonia
PubMedDOIMetascience Observatory

About TICAM1

This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]

View all TICAM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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