CausalSentinel

Protein Dossier — CCL17 (C-C motif chemokine 17)

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
Rheumatoid arthritis 0.102 0.0386 0.00851 Inverse variance weighted 2 trans NA
Rheumatoid arthritis 0.102 0.0386 0.00851 Inverse variance weighted 2 trans NA
Anorexia nervosa 0.218 0.0845 0.00983 Inverse variance weighted 2 trans NA
Anorexia nervosa 0.218 0.0845 0.00983 Inverse variance weighted 2 trans NA
Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux 0.00299 0.00119 0.0117 Inverse variance weighted 2 trans NA
Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux 0.00299 0.00119 0.0117 Inverse variance weighted 2 trans NA
Systemic lupus erythematosus 0.272 0.114 0.0172 Inverse variance weighted 2 trans NA
Systemic lupus erythematosus 0.272 0.114 0.0172 Inverse variance weighted 2 trans NA
Ischemic stroke -0.081 0.0373 0.03 Inverse variance weighted 2 trans NA
Ischemic stroke -0.081 0.0373 0.03 Inverse variance weighted 2 trans NA
Red blood cell count -0.0116 0.00576 0.0444 Inverse variance weighted 2 trans NA
Red blood cell count -0.0116 0.00576 0.0444 Inverse variance weighted 2 trans NA
…and 183 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3519_3_2 TARC Suhre K 2019

3. GWAS Catalog results — traits with signal at this locus

27 association rows across 17 traits (26 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 CCL17 levels (id: OID00439_OID20745) 2e-450 rs9302690 2 GCST90859799 no MR -> candidate analysis
CCL17 protein levels 2e-279 rs9302690 2 GCST90468569 no MR -> candidate analysis
Circulating CCL17 levels (id: OID00821_OID20745) 8e-261 rs9302690 2 GCST90860150 no MR -> candidate analysis
CCL17/CCL22 protein level ratio 3e-133 rs801506 1 GCST90313682 no MR -> candidate analysis
C-C motif chemokine 17 levels 1e-78 rs16956811 6 GCST90246905 no MR -> candidate analysis
Serum levels of protein CCL17 9e-49 rs4396523 2 GCST90088432 no MR -> candidate analysis
Blood protein levels 6e-30 rs16956811 1 GCST006585 no MR -> candidate analysis
Thymus and reactivation regulated chemokine levels 3e-29 rs223896 1 GCST011913 no MR -> candidate analysis
Fractalkine levels 3e-27 rs62037103 1 GCST90247635 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 7e-26 rs60679405 1 GCST90838669 no MR -> candidate analysis
C-C motif chemokine 17 levels (CCL17.3519.3.2) 2e-21 rs113022368 1 GCST90240486 no MR -> candidate analysis
Cerebrospinal fluid protein CCL17 levels 2e-20 rs223896 1 GCST90944147 no MR -> candidate analysis
…and 5 more traits (see JSON)          

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 531 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
cardiomyopathy 0.36 common-variant locus MR: beta=0.000116, p=0.173 (trans)
systemic lupus erythematosus 0.216 common-variant locus MR: beta=0.272, p=0.0172 (trans)

Of the 2 rows above, 0 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 0 known modulators (C-C motif chemokine 17)
gnomAD constraint pLI=0.00075, LOEUF=1.96 — LoF-tolerant
GWAS Catalog 67 unique SNPs / 134 rows
ClinVar 49 records; 11 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance