Protein Dossier — MMP10 (Stromelysin-2)
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 |
| Eczema |
0.233 |
0.0931 |
0.0122 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
-0.369 |
0.157 |
0.0189 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages |
0.247 |
0.106 |
0.0197 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.558 |
0.247 |
0.0237 |
Wald ratio |
1 |
cis |
NA |
| Nucleus accumbens volume |
-13.8 |
6.24 |
0.0266 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: iron deficiency anaemia |
0.233 |
0.106 |
0.0279 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain |
0.0893 |
0.0426 |
0.0363 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
-0.0993 |
0.0514 |
0.0535 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.118 |
0.061 |
0.0535 |
Wald ratio |
1 |
cis |
NA |
| Putamen volume |
-60.8 |
32.2 |
0.0589 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.113 |
0.0602 |
0.0606 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Arm |
0.155 |
0.0838 |
0.0641 |
Wald ratio |
1 |
cis |
NA |
| …and 60 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3743_1_2 |
MMP-10 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
33 association rows across 17 traits (31 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 MMP10 levels |
2e-597 |
rs17860955 |
3 |
GCST90859882 |
no MR -> candidate analysis |
| Matrix metalloproteinase-10 levels |
5e-155 |
rs17860955 |
4 |
GCST90012050 |
no MR -> candidate analysis |
| Stromelysin-2 levels |
5e-118 |
rs17860955 |
4 |
GCST90249716 |
no MR -> candidate analysis |
| Stromelysin-2 (analyte X10479.18) levels |
4e-80 |
rs12804929 |
1 |
GCST90421127 |
no MR -> candidate analysis |
| Serum levels of protein MMP10 |
3e-67 |
rs486055 |
4 |
GCST90090215 |
no MR -> candidate analysis |
| Matrix metalloproteinase-1 levels |
1e-48 |
rs12290253 |
1 |
GCST90012033 |
no MR -> candidate analysis |
| MMP10 protein levels |
2e-48 |
rs17359230 |
3 |
GCST90469915 |
no MR -> candidate analysis |
| Stromelysin-2 (analyte X8479.4) levels |
6e-47 |
rs486055 |
1 |
GCST90427410 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein MMP10 levels |
5e-42 |
rs486055 |
1 |
GCST90944431 |
no MR -> candidate analysis |
| Stromelysin-2 levels (MMP10.8479.4.3) |
1e-23 |
rs17860955 |
2 |
GCST90242905 |
no MR -> candidate analysis |
| Blood protein levels |
4e-21 |
rs12807063 |
2 |
GCST006585 |
no MR -> candidate analysis |
| MMP3 protein levels |
8e-14 |
rs17860984 |
1 |
GCST90469920 |
no MR -> candidate analysis |
| …and 5 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 629 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 |
| respiratory tract infectious disorder |
0.19 |
— |
common-variant locus |
no MR -> candidate analysis |
| benign neoplasm |
0.19 |
— |
common-variant locus |
MR: beta=-0.0813, p=0.362 (cis) |
| essential tremor |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 3 rows above, 2 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 (Stromelysin-2) |
| gnomAD constraint |
pLI=8.1e-18, LOEUF=1.29 — LoF-tolerant |
| GWAS Catalog |
168 unique SNPs / 382 rows |
| ClinVar |
119 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 629 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 ‘MMP10’ and resolved to ‘Stromelysin-2’ — confirm this is the intended target.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 119 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 17 of 17 traits by best p-value, aggregated from 33 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/P09238 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000166670/associations — Open Targets data release 26.06
chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4270/ — ChEMBL_37 (released 2026-05-01)
gnomad: https://gnomad.broadinstitute.org/gene/MMP10 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/MMP10 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MMP10%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/MMP10 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:49:48 · 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