CausalSentinel

Protein Dossier — PRCP (Lysosomal Pro-X carboxypeptidase)

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: muscle or soft tissue injuries 0.365 0.0893 4.37e-05 Wald ratio 1 cis NA
Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone 0.294 0.0917 0.00134 Wald ratio 1 cis NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms 0.198 0.0724 0.00616 Wald ratio 1 cis NA
Non-cancer illness code self-reported: ankylosing spondylitis 0.385 0.142 0.00685 Wald ratio 1 cis NA
Diagnoses - main ICD10: R14 Flatulence and related conditions 0.646 0.254 0.0109 Wald ratio 1 cis NA
Bulimia nervosa -0.0859 0.0344 0.0124 Wald ratio 1 cis NA
Coronary heart disease 0.108 0.0445 0.0153 Wald ratio 1 cis NA
Myocardial infarction 0.117 0.0489 0.017 Wald ratio 1 cis NA
Amyotrophic lateral sclerosis 0.191 0.0811 0.0183 Wald ratio 1 cis NA
Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level 0.391 0.191 0.0404 Wald ratio 1 cis NA
Non-cancer illness code self-reported: bone disorder 0.328 0.172 0.0561 Wald ratio 1 cis NA
Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis 0.235 0.127 0.0644 Wald ratio 1 cis NA
…and 52 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

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

15 association rows across 12 traits (12 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 PRCP levels 4e-112 rs530515812 3 GCST90860469 no MR -> candidate analysis
Lysosomal Pro-X carboxypeptidase levels 5e-67 rs2229437 1 GCST90248367 no MR -> candidate analysis
Adolescent idiopathic scoliosis 7e-33 rs12289095 1 GCST006287 no MR -> candidate analysis
PRCP protein levels 1e-28 rs2510290 2 GCST90470314 no MR -> candidate analysis
Lysosomal Pro-X carboxypeptidase levels (PRCP.5722.78.3) 3e-20 rs2229437 1 GCST90241844 no MR -> candidate analysis
Serum levels of protein PRCP 4e-16 rs2229437 1 GCST90089168 no MR -> candidate analysis
PCP protein level (protein group normalized intensity) 6e-12 rs11233371 1 GCST90570869 no MR -> candidate analysis
Blood protein levels 2e-9 rs10898041 1 GCST006585 no MR -> candidate analysis
COVID-19 (hospitalized covid vs population) 2e-8 rs77599934 1 GCST90454506 no MR -> candidate analysis
RS-10-hydroxywarfarin to RS-warfarin ratio 9e-7 rs142660981 1 GCST90129574 no MR -> candidate analysis
Tinnitus 5e-6 rs7107322 1 GCST90267564 no MR -> candidate analysis
Obesity-related traits 6e-6 rs10792665 1 GCST001762 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 167 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
stroke disorder 0.401 common-variant locus no MR -> candidate analysis
alcohol drinking 0.401 common-variant locus no MR -> candidate analysis
adolescent idiopathic scoliosis 0.391 common-variant locus no MR -> candidate analysis
herpes zoster 0.092 common-variant locus no MR -> candidate analysis
psoriatic arthritis 0.071 common-variant locus no MR -> candidate analysis

Of the 5 rows above, 5 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 (Lysosomal Pro-X carboxypeptidase)
gnomAD constraint pLI=6.9e-14, LOEUF=1.09 — LoF-tolerant
GWAS Catalog 23 unique SNPs / 42 rows
ClinVar 105 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx 1 clinical annotations across 1 drugs

Caveats declared by the tools

Sources

Provenance