CausalSentinel

Protein Dossier — CD163 (Scavenger receptor cysteine-rich type 1 protein M130)

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: osteoporosis 0.148 0.0636 0.0197 Wald ratio 1 trans NA
Diagnoses - main ICD10: I30 Acute pericarditis 0.671 0.295 0.0231 Wald ratio 1 trans NA
Cancer code self-reported: prostate cancer 0.2 0.0885 0.0239 Wald ratio 1 trans NA
Coronary heart disease 0.109 0.0483 0.0242 Wald ratio 1 trans NA
Diagnoses - main ICD10: B37 Candidiasis 0.559 0.272 0.0403 Wald ratio 1 trans NA
Rheumatoid arthritis -0.152 0.08 0.0572 Wald ratio 1 trans NA
Non-cancer illness code self-reported: asthma 0.0463 0.0245 0.0588 Wald ratio 1 trans NA
Myocardial infarction 0.0956 0.0518 0.0648 Wald ratio 1 trans NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter -0.269 0.146 0.0659 Wald ratio 1 trans NA
Non-cancer illness code self-reported: high cholesterol -0.0475 0.026 0.0675 Wald ratio 1 trans NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) -0.135 0.0747 0.0715 Wald ratio 1 trans NA
Sodium in urine -0.0151 0.009 0.0945 Wald ratio 1 trans NA
…and 53 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-5028_59_1 sCD163 Suhre K 2019

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

183 association rows across 105 traits (176 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
Creatine kinase levels 1e-337 rs7305678 7 GCST90838680 no MR -> candidate analysis
FOLR2 protein levels 3e-176 rs61729512 3 GCST90469260 no MR -> candidate analysis
FOLR2/THY1 protein level ratio 3e-142 rs7980201 1 GCST90314867 no MR -> candidate analysis
Lactate dehydrogenase levels 7e-104 rs6488345 4 GCST006013 no MR -> candidate analysis
FOLR3 protein levels 6e-101 rs61729512 3 GCST90469261 no MR -> candidate analysis
Circulating FOLR3 levels 3e-96 rs61729512 3 GCST90860079 no MR -> candidate analysis
KLK7 protein levels 6e-95 rs61729512 3 GCST90469706 no MR -> candidate analysis
total creatine kinase (mean, inv-norm transformed) 6e-84 rs4883279 2 GCST90480709 no MR -> candidate analysis
total creatine kinase (minimum, inv-norm transformed) 3e-82 rs4883279 2 GCST90480710 no MR -> candidate analysis
Circulating CD163 levels 5e-79 rs7305678 4 GCST90859926 no MR -> candidate analysis
total creatine kinase (maximum, inv-norm transformed) 3e-75 rs4883279 2 GCST90480708 no MR -> candidate analysis
CLEC4C protein levels 9e-72 rs11054195 4 GCST90468772 no MR -> candidate analysis
…and 93 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 1418 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
adolescent idiopathic scoliosis 0.416 common-variant locus no MR -> candidate analysis
arthropathy 0.401 common-variant locus no MR -> candidate analysis
acute tonsillitis 0.401 common-variant locus no MR -> candidate analysis
CINCA syndrome 0.304 established (curated) no MR -> candidate analysis
stroke disorder 0.262 common-variant locus no MR -> candidate analysis
alcohol drinking 0.262 common-variant locus no MR -> candidate analysis

Of the 6 rows above, 6 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=4e-07, LOEUF=0.61 — LoF-tolerant
GWAS Catalog 117 unique SNPs / 260 rows
ClinVar 197 records; 4 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance