rs1133763

This is a protein-altering variant in the CCL8 gene.

▶

GWAS Catalog Trait Associations (3)

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

C-C motif chemokine 7 level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.91
p —
N 10,708
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.92
p 1.0e-177
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

C-C motif chemokine 8 level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 1.24
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.230
p 1.0e-11
N 3,301
Large GWAS
European

protein measurement

Hartley AE et al. “Deciphering tissue-specific protein regulation for insights into cardiometabolic disease.” Molecular Metabolism 104:102314 (2026)
Allele C
OR —
p 2.0e-9
N 272
Small GWAS
European
▶

Research that mentions this SNP (1)

▶
CCL8/MCP-2 association analysis in patients with Alzheimer’s disease and frontotemporal lobar degeneration
AssociationN=659Chiara Villa et al.(2009)· Journal of Neurology

Case-control association study investigating CCL8/MCP-2 rs1133763 (an amino acid substitution variant) in 219 Alzheimer's disease patients, 209 frontotemporal lobar degeneration patients, and 231 age-matched controls. The study found no significant difference in rs1133763 allele or genotype distribution between patients and controls, suggesting this variant does not influence susceptibility to AD or FTLD in Caucasians.

Traits studied:Alzheimer's diseaseFrontotemporal lobar degeneration
PubMedDOIMetascience Observatory

About CCL8

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014]

View all CCL8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…