rs1799864

This is a variant in the CCR2 gene that changes a valine to an isoleucine.

GWAS Catalog Trait Associations (2)

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

monocyte count

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.06
p 2.0e-38
N 429,585
Major Consortium StudyLarge GWAS
multi-ancestry
Allele G
OR 0.05
p 1.0e-11
N 170,721
Large GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.05
p 8.0e-22
N 95,119
Large GWAS
East Asian

C-C motif chemokine 2 level

Allele A
OR 0.28
p 6.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Allele A
OR 0.22
p 7.0e-12
N 5,365
Large GWAS
European

ClinVar annotation

Benign
2 submitters2 publications

CCR2-related disorder; Susceptibility to HIV infection

View on ClinVar →

Research that mentions this SNP (2)

Genome‐wide association study of neurocognitive impairment and dementia in HIV‐infected adults
AssociationN=1,287Andrew J. Levine et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

First genome-wide association study (GWAS) of HIV-associated neurocognitive disorders (HAND) in 1287 HIV-infected adults from the Multicenter AIDS Cohort Study. The study examined neurocognitive decline in processing speed and executive functioning over time, as well as prevalence of HIV-associated dementia and neurocognitive impairment across ~2.5 million SNPs. No genome-wide significant associations were identified with any neurocognitive phenotype examined. Previously reported candidate gene associations with HAND (including rs1130371 in MIP1α, rs1800629 in TNFα, rs1801157 in SDF-1, and rs2839619 in PREP1) were not validated in this study.

Traits studied:Executive functioning declineHIV-associated dementia (HAD)HIV-associated neurocognitive disorder (HAND)Neurocognitive impairment (NCI)Processing speed decline
Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans
AssociationN=6,779Lyna Zhang et al.(2012)· Hepatology

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

Traits studied:Anti-HAV seropositivityHepatitis A virus (HAV) infection

About CCR2

The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]

View all CCR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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