rs4833095
This is a variant in the TLR1 gene that changes a asparagine to an serine.
▶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.
asthma, seasonal allergic rhinitis
▶ClinVar annotation
Leprosy, susceptibility to, 5; TLR1-related disorder
View on ClinVar →▶Research that mentions this SNP (3)
▶Identification of Genetic Loci Associated With Helicobacter pylori Serologic StatusAssociationN=10,938Julia Mayerle et al.(2013)· JAMA
GWAS meta-analysis of 10,938 participants identified two genome-wide significant loci associated with Helicobacter pylori seroprevalence: the TLR1 locus at 4p14 (rs10004195, OR=0.70, P=1.4×10^-18) and the FCGR2A locus at 1q23.3 (rs368433, OR=0.73, P=2.1×10^-8). Whole-blood transcriptome analysis revealed that rs10004195 is associated with differential expression of TLR1 (β=-0.23, P=2.1×10^-4), and individuals with high fecal H. pylori antigen titers exhibited elevated TLR1 expression levels.
▶A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinksMeta-analysisN=4,915Manav Kapoor et al.(2013)· Human Genetics
A meta-analysis of two genome-wide association studies (COGA and SAGE) identifying genetic variants associated with maximum number of alcoholic drinks consumed in 24 hours (maxdrinks). The study combined 4,915 participants of European descent and found suggestive associations with multiple loci including rs1229984 (ADH1B, p=2.04×10⁻⁸), rs4758317 (LMO1, p=7.2×10⁻⁷), and variants in PLCL1 (p=4.07×10⁻⁶). Approximately 40% of the variance in maxdrinks was explained by genome-wide SNPs.
▶Host immune gene polymorphisms were associated with the prognosis of non‐small‐cell lung cancer in ChineseAssociationN=568Juncheng Dai et al.(2012)· International Journal of Cancer
A prospective study of 568 Chinese non-small-cell lung cancer (NSCLC) patients found that four immune gene polymorphisms were independently associated with survival: IL-5R rs11713419 (5'-UTR, P=0.001), IL23R rs6682925 (5'-FR, P=0.017), TLR1 rs5743551 (5'-FR, P=0.02), and TLR3 rs3775291 (Leu412Phe, P=0.01). Patients carrying 1 unfavorable locus had 124% increased mortality risk (HR=2.24, 95% CI: 1.33-3.75), and those with 2-4 unfavorable loci had 175% increased risk (HR=2.75, 95% CI: 1.67-4.51). Combined SNP and clinical risk score model achieved 5-year AUC of 0.831 versus 0.484 for clinical factors alone.
About TLR1
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 (PAMPs) 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. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
View all TLR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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