rs4543123

This is a coding sequence variant variant in the TLR1 gene.

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GWAS Catalog Trait Associations (1)

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

C-C motif chemokine 3 level

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR —
β 0.070
p 1.0e-11
N 21,758
Large GWAS
European
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Research that mentions this SNP (1)

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A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks
Meta-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.

Traits studied:Alcohol dependenceExcessive alcohol consumptionMaximum number of alcoholic drinks in 24-hour period
PubMedDOIMetascience Observatory

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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