Protein Dossier — CCL2 (C-C motif chemokine 2)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.194 |
0.0561 |
5.62e-04 |
Wald ratio |
1 |
trans |
NA |
| Ulcerative colitis |
-0.248 |
0.0775 |
0.00139 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone |
0.363 |
0.122 |
0.00297 |
Wald ratio |
1 |
trans |
NA |
| Inflammatory bowel disease |
-0.172 |
0.0615 |
0.00527 |
Wald ratio |
1 |
trans |
NA |
| Weight |
0.035 |
0.0135 |
0.00943 |
Wald ratio |
1 |
trans |
NA |
| Amygdala volume |
35.6 |
13.8 |
0.00959 |
Wald ratio |
1 |
trans |
NA |
| Sodium in urine |
-0.0376 |
0.015 |
0.0123 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.234 |
0.0995 |
0.0187 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
0.204 |
0.0957 |
0.0335 |
Wald ratio |
1 |
trans |
NA |
| Invasive mucinous ovarian cancer |
0.483 |
0.229 |
0.0344 |
Wald ratio |
1 |
trans |
NA |
| Diastolic blood pressure automated reading |
0.0315 |
0.0156 |
0.0435 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: K20 Oesophagitis |
0.233 |
0.124 |
0.0604 |
Wald ratio |
1 |
trans |
NA |
| …and 71 more outcomes (see JSON) |
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2578_67_2 |
MCP-1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
72 association rows across 39 traits (69 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Circulating CCL8 levels (id: OID00549_OID21466) |
1e-346 |
rs11652585 |
5 |
GCST90859899 |
no MR -> candidate analysis |
| CCL7 protein levels |
6e-281 |
rs74832623 |
2 |
GCST90428425 |
no MR -> candidate analysis |
| Circulating CCL8 levels (id: OID00795_OID21466) |
8e-255 |
rs11652585 |
5 |
GCST90860127 |
no MR -> candidate analysis |
| Circulating CCL13 levels (id: OID00504_OID20655) |
3e-208 |
rs6505402 |
1 |
GCST90859860 |
no MR -> candidate analysis |
| Circulating CCL13 levels (id: OID00768_OID20655) |
4e-147 |
rs6505402 |
1 |
GCST90860103 |
no MR -> candidate analysis |
| C-C motif chemokine 7 levels |
5e-62 |
rs12601658 |
5 |
GCST90246921 |
no MR -> candidate analysis |
| Corneodesmosin levels |
1e-56 |
rs6505402 |
1 |
GCST90247131 |
no MR -> candidate analysis |
| Circulating CCL7 levels (id: OID00474_OID20523) |
2e-48 |
rs6505401 |
2 |
GCST90859834 |
no MR -> candidate analysis |
| Serum levels of protein CCL7 |
4e-41 |
rs12601658 |
1 |
GCST90088794 |
no MR -> candidate analysis |
| Circulating CCL7 levels (id: OID00755_OID20523) |
8e-34 |
rs6505401 |
2 |
GCST90860091 |
no MR -> candidate analysis |
| Circulating CCL11 levels (id: OID00505_OID20668) |
1e-28 |
rs8080790 |
1 |
GCST90859861 |
no MR -> candidate analysis |
| Inflammatory bowel disease |
1e-26 |
rs3091316 |
5 |
GCST001725 |
MR: beta=-0.172, p=0.00527 (trans) |
| …and 27 more traits (see JSON) |
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|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 2231 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| Crohn disease |
0.592 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.587 |
— |
common-variant locus |
no MR -> candidate analysis |
| inflammatory bowel disease |
0.506 |
— |
common-variant locus |
MR: beta=-0.172, p=0.00527 (trans) |
| Abnormality of the skeletal system |
0.509 |
— |
common-variant locus |
no MR -> candidate analysis |
| ulcerative colitis |
0.488 |
— |
common-variant locus |
MR: beta=-0.248, p=0.00139 (trans) |
| urolithiasis |
0.463 |
— |
common-variant locus |
no MR -> candidate analysis |
| cartilage disease |
0.456 |
— |
common-variant locus |
no MR -> candidate analysis |
| colitis |
0.41 |
— |
common-variant locus |
MR: beta=-0.248, p=0.00139 (trans) |
| psoriasis |
0.399 |
— |
common-variant locus |
MR: beta=-0.252, p=0.192 (trans) |
| enteritis |
0.41 |
— |
common-variant locus |
no MR -> candidate analysis |
| B-cell acute lymphoblastic leukemia |
0.412 |
— |
common-variant locus |
no MR -> candidate analysis |
| ankylosing spondylitis |
0.399 |
— |
common-variant locus |
no MR -> candidate analysis |
| sclerosing cholangitis |
0.399 |
— |
common-variant locus |
MR: beta=-0.193, p=0.281 (trans) |
| nervous system benign neoplasm |
0.375 |
— |
common-variant locus |
no MR -> candidate analysis |
| drug allergy |
0.367 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 10 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
1 known modulators (C-C motif chemokine 2) |
| gnomAD constraint |
pLI=0.54, LOEUF=0.944 — LoF-tolerant |
| GWAS Catalog |
101 unique SNPs / 210 rows |
| ClinVar |
30 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 2231 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CCL2’ and resolved to ‘C-C motif chemokine 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 30 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 39 traits by best p-value, aggregated from 72 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P13500 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000108691/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1649052/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CCL2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CCL2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CCL2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CCL2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:33:40 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: pharmgkb