rs3181077

This is a upstream gene variant variant in the CCR1 gene.

GWAS Catalog Trait Associations (4)

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

basophil count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.04
p 3.0e-72
N 408,112
Large GWAS
European
Allele T
OR
p 5.0e-57
N 577,663
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 7.0e-19
N 441,764
Large GWAS
multi-ancestry
Allele T
OR 0.04
p 1.0e-19
N 171,846
Large GWAS
European

basophil percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.04
p 2.0e-66
N 408,112
Large GWAS
European
Allele T
OR 0.04
p 4.0e-20
N 171,996
Large GWAS
European

eotaxin measurement

Allele T
OR 0.08
p 4.0e-40
N 47,745
Large GWAS
European

basophil percentage of granulocytes

Allele T
OR 0.03
p 2.0e-16
N 170,223
Large GWAS
European

Research that mentions this SNP (1)

Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behçet’s disease susceptibility
AssociationN=2,338Shengping Hou et al.(2012)· Human Genetics

A two-stage association study in Chinese Han population identified multiple independent SNPs in the CCR1/CCR3 locus associated with Behçet's disease susceptibility. Three SNPs (rs13084057, rs13092160, rs13075270) showed consistent association across both stages with combined P-values ranging from 2.76×10⁻⁷ to 6.50×10⁻⁸ and odds ratios of 0.28-0.32, indicating protective effects. SNP rs13092160 was identified as an eQTL variant affecting CCR1 and CCR3 gene expression.

Traits studied:Behçet's disease

About CCR1

This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]

View all CCR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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