Protein Dossier — MMP7 (Matrilysin)
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 |
| Diagnoses - main ICD10: R55 Syncope and collapse |
0.179 |
0.0662 |
0.00688 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
0.0604 |
0.0234 |
0.00987 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate |
0.163 |
0.066 |
0.0137 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd |
0.233 |
0.102 |
0.0223 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast |
0.114 |
0.0519 |
0.0287 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression |
0.242 |
0.116 |
0.0369 |
Wald ratio |
1 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
0.0793 |
0.0385 |
0.0395 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.245 |
0.126 |
0.0521 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: polio or poliomyelitis |
0.39 |
0.202 |
0.0527 |
Wald ratio |
1 |
cis |
NA |
| Neo-openness to experience |
-0.482 |
0.257 |
0.0609 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0216 |
0.0117 |
0.0649 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
0.222 |
0.123 |
0.072 |
Wald ratio |
1 |
cis |
NA |
| …and 94 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-2789_26_2 |
MMP-7 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
78 association rows across 31 traits (68 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 MMP7 levels (id: OID00441_OID20087) |
4e-661 |
rs11568819 |
5 |
GCST90859801 |
no MR -> candidate analysis |
| Circulating MMP7 levels (id: OID00814_OID20087) |
3e-387 |
rs11568819 |
6 |
GCST90860144 |
no MR -> candidate analysis |
| Matrilysin (analyte X2789.26) levels |
2e-278 |
rs11568819 |
1 |
GCST90425473 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein MMP7 levels |
1e-232 |
rs11568819 |
1 |
GCST90944433 |
no MR -> candidate analysis |
| Matrix metalloproteinase-7 levels |
2e-222 |
rs11568819 |
6 |
GCST90012056 |
no MR -> candidate analysis |
| Matrilysin levels |
2e-139 |
rs11568819 |
7 |
GCST90248425 |
no MR -> candidate analysis |
| MMP7 protein levels |
6e-112 |
rs7946641 |
3 |
GCST90469921 |
no MR -> candidate analysis |
| MMP10 protein levels |
4e-111 |
rs184354018 |
3 |
GCST90469915 |
no MR -> candidate analysis |
| Prostate-specific antigen levels |
3e-82 |
rs11568818 |
5 |
GCST90461907 |
no MR -> candidate analysis |
| prostate-specific antigen (PSA, minimum, inv-norm transforme |
2e-49 |
rs11568818 |
2 |
GCST90476322 |
no MR -> candidate analysis |
| Serum levels of protein MMP7 |
6e-42 |
rs11568819 |
1 |
GCST90088072 |
no MR -> candidate analysis |
| prostate-specific antigen (PSA, mean, inv-norm transformed) |
1e-39 |
rs11568818 |
2 |
GCST90476319 |
no MR -> candidate analysis |
| …and 19 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 1135 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 |
| prostate carcinoma |
0.745 |
— |
common-variant locus |
no MR -> candidate analysis |
| prostate cancer |
0.663 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 2 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 |
4 known modulators (Matrilysin) |
| gnomAD constraint |
pLI=3.9e-08, LOEUF=1.15 — LoF-tolerant |
| GWAS Catalog |
65 unique SNPs / 129 rows |
| ClinVar |
75 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1135 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 ‘MMP7’ and resolved to ‘Matrilysin’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 75 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 31 traits by best p-value, aggregated from 78 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/P09237 — 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/ENSG00000137673/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4073/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MMP7 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MMP7 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MMP7%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MMP7 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:50:23 · 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