Protein Dossier — CTSC (Dipeptidyl peptidase 1)
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 |
| Serum cystatin C (eGFRcys) |
0.00972 |
0.00356 |
0.00639 |
Wald ratio |
1 |
cis |
NA |
| Squamous cell lung cancer |
0.153 |
0.0575 |
0.00786 |
Wald ratio |
1 |
cis |
NA |
| Neo-extraversion |
-0.336 |
0.135 |
0.0128 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.04 |
0.0176 |
0.0233 |
Wald ratio |
1 |
cis |
NA |
| LDL cholesterol |
0.0218 |
0.00972 |
0.0248 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: anxiety or panic attacks |
-0.0916 |
0.0422 |
0.0298 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
-0.00752 |
0.00348 |
0.0306 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.043 |
0.0201 |
0.0324 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
0.0399 |
0.0188 |
0.0341 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0226 |
0.0119 |
0.0574 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
0.056 |
0.0297 |
0.0591 |
Wald ratio |
1 |
cis |
NA |
| HOMA-IR |
-0.014 |
0.00745 |
0.0596 |
Wald ratio |
1 |
cis |
NA |
| …and 102 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3178_5_2 |
CATC |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
58 association rows across 36 traits (48 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 CTSC levels |
3e-2111 |
rs72966841 |
6 |
GCST90859719 |
no MR -> candidate analysis |
| CTSC/PLA2G15 protein level ratio |
2e-1939 |
rs17756204 |
1 |
GCST90314311 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein CTSC levels |
8e-231 |
rs217074 |
1 |
GCST90944229 |
no MR -> candidate analysis |
| Serum levels of protein CTSC |
2e-196 |
rs72966841 |
2 |
GCST90087643 |
no MR -> candidate analysis |
| Blood protein levels |
2e-107 |
rs55897509 |
1 |
GCST006585 |
no MR -> candidate analysis |
| CTSC protein levels |
2e-93 |
rs188507222 |
8 |
GCST90468909 |
no MR -> candidate analysis |
| Dipeptidyl peptidase 1 (analyte X13730.18) levels |
6e-91 |
rs199699082 |
1 |
GCST90422331 |
no MR -> candidate analysis |
| Dipeptidyl peptidase 1 levels |
4e-57 |
rs217053 |
2 |
GCST90059939 |
no MR -> candidate analysis |
| Bone mineral density mean |
5e-43 |
rs190606806 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| Neurological blood protein biomarker levels |
3e-25 |
rs17756204 |
3 |
GCST008478 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
1e-24 |
rs72964988 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Neutrophil side fluorescence |
2e-15 |
rs143462667 |
1 |
GCST90281223 |
no MR -> candidate analysis |
| …and 24 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 365 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 |
| Papillon-Lefèvre syndrome |
0.939 |
— |
established (curated) |
no MR -> candidate analysis |
| Haim-Munk syndrome |
0.852 |
— |
established (curated) |
no MR -> candidate analysis |
| Papillon-Lefevre disease |
0.902 |
— |
established (curated) |
no MR -> candidate analysis |
| periodontitis, aggressive 1 |
0.76 |
— |
established (curated) |
no MR -> candidate analysis |
| periodontitis |
0.76 |
— |
established (curated) |
no MR -> candidate analysis |
| chronic periodontitis |
0.76 |
— |
established (curated) |
no MR -> candidate analysis |
| hair color |
0.622 |
— |
common-variant locus |
no MR -> candidate analysis |
| narcolepsy-cataplexy syndrome |
0.565 |
— |
common-variant locus |
no MR -> candidate analysis |
| CTSC-related disorder |
0.507 |
— |
established (curated) |
no MR -> candidate analysis |
| liver disorder |
0.484 |
— |
common-variant locus |
no MR -> candidate analysis |
| contact dermatitis |
0.44 |
— |
common-variant locus |
no MR -> candidate analysis |
| metabolic disease |
0.362 |
— |
common-variant locus |
no MR -> candidate analysis |
| corneal ulcer |
0.356 |
— |
common-variant locus |
no MR -> candidate analysis |
| cervical carcinoma |
0.356 |
— |
common-variant locus |
no MR -> candidate analysis |
| sunburn |
0.33 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 15 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 (Dipeptidyl peptidase 1) |
| gnomAD constraint |
pLI=4.4e-12, LOEUF=1.19 — LoF-tolerant |
| GWAS Catalog |
60 unique SNPs / 107 rows |
| ClinVar |
606 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 365 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 ‘CTSC’ and resolved to ‘Dipeptidyl peptidase 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 606 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 20 of 36 traits by best p-value, aggregated from 58 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/P53634 — 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/ENSG00000109861/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2252/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CTSC — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CTSC — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CTSC%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CTSC — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:11:06 · 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