rs2107538

This is a regulatory region variant variant in the CCL5 gene.

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GWAS Catalog Trait Associations (3)

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

C-C motif chemokine 5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.20
p 2.0e-169
N 47,745
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 T
OR 0.29
p 2.0e-17
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.35
p 7.0e-107
N 10,708
Large GWAS
European

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 0.39
p 5.0e-35
N 3,200
Large GWAS
European
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Research that mentions this SNP (4)

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IL17Agene polymorphisms, serum IL-17A and IgE levels, and hepatocellular carcinoma risk in patients with chronic hepatitis B virus infection
AssociationN=577Na Li et al.(2014)· Molecular Carcinogenesis

Immunogenetic study of pulmonary tuberculosis in a Spanish population (n=577), investigating HLA, KIR genes, and immune response genes. Found associations of HLA alleles (HLA-A*02, HLA-B*07, HLA-C*08, HLA-DRB1*04) with TB susceptibility/resistance, KIR gene distributions with TB progression, CCL5 promoter polymorphisms (rs2280788, rs2107538) with TB susceptibility, IL-17 rs2275913 -152G allele with increased TB risk (OR 1.40), TLR1 rs5743618 (T1805G) in recessive model, and Dectin-1/CARD9 haplotypes (rs3901533, rs7309123, rs16910526, rs4077515) associated with TB susceptibility.

Traits studied:Latent tuberculosis infectionPulmonary tuberculosisTuberculosis susceptibility
PubMedDOIMetascience Observatory
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Interleukin‐17 gene polymorphisms are associated with bladder cancer in a chinese han population
AssociationN=1,060Bin Zhou et al.(2013)· Molecular Carcinogenesis

A retrospective case-control study investigating immunogenetic factors in pulmonary tuberculosis (TBP) conducted in Cantabria, Spain with 318 TBP patients, 218 latently infected (ITL) individuals, and 524 healthy controls. Multiple HLA alleles and immune-related genetic polymorphisms were analyzed for association with TB susceptibility. Key findings include HLA-B07, B08, B14, B44 as protective factors against active disease; the IL-17 -152G allele (rs2275913) and GG genotype significantly more frequent in TBP patients (OR 1.40-1.59, p<0.02); TLR1 1805G polymorphism (rs5743618) associated with TB susceptibility; and KIR gene frequency variations between study groups.

Traits studied:Tuberculosis, Latent InfectionTuberculosis, Pulmonary
PubMedDOIMetascience Observatory
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Genetic polymorphisms in chronic hyperplastic sinusitis with nasal polyposis
AssociationN=332Joel M. Bernstein et al.(2009)· The Laryngoscope

Case-control study of 179 patients with chronic hyperplastic sinusitis with nasal polyposis (CHSwNP) and 153 controls examining 14 cytokine gene polymorphisms. The TNFα -308 SNP (rs1800629) was significantly associated with nasal polyposis susceptibility, with the A allele present in 18.6% of cases versus 11.5% of controls (odds ratio 1.86, 95% CI 1.14-3.09). All other cytokine polymorphisms tested were not statistically significant.

Traits studied:Chronic hyperplastic sinusitis with nasal polyposisNasal polyposis
PubMedDOIMetascience Observatory
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TNF polymorphisms and prostate cancer risk
AssociationN=627Kim N. Danforth et al.(2008)· The Prostate

This cross-sectional study of 627 unvaccinated COVID-19 patients examined associations between cytokine gene polymorphisms and COVID-19 severity. Five polymorphisms were significantly associated with severe disease: TNF-α rs1800610 A allele (OR=1.50), IL-6 rs1800796 C allele (OR=1.64), IL-10 rs1800871 T allele (OR=1.94), IL-10 rs1800872 A allele (OR=1.87), and CCL5 rs3817656 G allele (OR=1.64). IL-10 rs1800629 was protective against moderate and severe disease.

Traits studied:COVID-19 mortalityCOVID-19 severity
PubMedDOIMetascience Observatory

About CCL5

This 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 the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

View all CCL5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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