Protein Dossier — CASP3 (Caspase-3)
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 |
| Systemic lupus erythematosus |
-0.519 |
0.177 |
0.00339 |
Wald ratio |
1 |
cis |
NA |
| Body fat |
-0.0523 |
0.0215 |
0.0149 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0294 |
0.0121 |
0.0149 |
Wald ratio |
1 |
cis |
NA |
| Birth length |
-0.091 |
0.0387 |
0.0186 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis |
0.209 |
0.089 |
0.0189 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
0.0827 |
0.0355 |
0.0199 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.0913 |
0.0412 |
0.0265 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
0.0359 |
0.0166 |
0.0302 |
Wald ratio |
1 |
cis |
NA |
| HbA1C |
0.0281 |
0.0131 |
0.0328 |
Wald ratio |
1 |
cis |
NA |
| High grade serous ovarian cancer |
-0.117 |
0.0588 |
0.0465 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
-0.0656 |
0.0331 |
0.0477 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: L03 Cellulitis |
-0.277 |
0.141 |
0.0491 |
Wald ratio |
1 |
cis |
NA |
| …and 88 more outcomes (see JSON) |
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|
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3593_72_3 |
Caspase-3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
6 association rows across 5 traits (5 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 |
| CASP3/SERPINB9 protein level ratio |
7e-113 |
rs113420705 |
1 |
GCST90313642 |
no MR -> candidate analysis |
| CASP3 protein levels |
5e-73 |
rs62339863 |
1 |
GCST90468545 |
no MR -> candidate analysis |
| Caspase-3 levels |
3e-40 |
rs4647601 |
1 |
GCST90246840 |
no MR -> candidate analysis |
| Kawasaki disease |
1e-10 |
rs2720378 |
2 |
GCST90013537 |
no MR -> candidate analysis |
| IL18R1 levels |
5e-6 |
rs3087455 |
1 |
GCST90503374 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 3936 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 |
| Kawasaki disease |
0.542 |
— |
established (curated) |
no MR -> candidate analysis |
| response to vaccine |
0.616 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to water |
0.492 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to stimulus |
0.351 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 4 rows above, 4 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 (Caspase-3) |
| gnomAD constraint |
pLI=0.008, LOEUF=0.809 — LoF-tolerant |
| GWAS Catalog |
25 unique SNPs / 50 rows |
| ClinVar |
146 records; 12 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 3936 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 ‘CASP3’ and resolved to ‘Caspase-3’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 146 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 5 of 5 traits by best p-value, aggregated from 6 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/P42574 — 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/ENSG00000164305/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2334/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CASP3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CASP3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CASP3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CASP3 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:28:12 · 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: none