Genetic variant
rs1799864 a variant in the CCR2 gene
rs1799864 is a single-letter difference in the CCR2 gene, on chromosome 3. ClinVar, the public archive of variant interpretations, lists it as benign: not known to cause disease. It has been reported in connection with Susceptibility to HIV infection and CCR2-related disorder. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1799864 is the catalogue number of one of them, in the CCR2 gene. Which letters you carry there — one copy from each parent — is your genotype.
CCR2 (C-C motif chemokine receptor 2): 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.
Gene description from NCBI Gene
Compared with individuals without CCR5-Delta32 (a variation in another gene) or rs1799864(A), indivi...
From SNPedia
Why might it matter?
ClinVar records this variant as benign, meaning not known to cause disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Susceptibility to HIV infection
- CCR2-related disorder
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs1799864, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs1799864
- Gene
- CCR2
- Position
- chr3:46357717
- ClinVar classification
- Benign; protective
Genome-wide association studies (10)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| CCL11/CCL2 protein level ratio | — | OR 0.33 | 9E-138 | PubMed |
| monocyte (fraction, mean, inv-norm transformed) | G | β 0.061 | 2E-38 | PubMed |
| monocyte (absolute count, mean, inv-norm transformed) | G | β 0.054 | 6E-27 | PubMed |
| monocyte (fraction, minimum, inv-norm transformed) | G | β 0.047 | 6E-27 | PubMed |
| monocyte (absolute count, minimum, inv-norm transformed) | G | β 0.046 | 7E-23 | PubMed |
| Monocyte count | A | β 0.047 | 8E-22 | PubMed |
| monocyte (absolute count, maximum, inv-norm transformed) | G | β 0.039 | 7E-16 | PubMed |
| C-C motif chemokine 2 levels | A | OR 0.28 | 6E-12 | PubMed |
| Serum levels of protein CCL2 | A | OR 0.22 | 7E-12 | PubMed |
| Monocyte count | A | β 0.046 | 1E-11 | PubMed |
Sources
- dbSNP: rs1799864 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: CCR2
- Ensembl: CCR2
- GWAS Catalog — association studies