Protein Dossier — MMP8 (Neutrophil collagenase)
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 |
| Height |
-0.0985 |
0.0217 |
5.48e-06 |
Wald ratio |
1 |
trans |
NA |
| Lumbar spine bone mineral density |
0.218 |
0.0635 |
6.05e-04 |
Wald ratio |
1 |
trans |
NA |
| Cancer code self-reported: prostate cancer |
-0.00295 |
0.000896 |
9.99e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| Cancer code self-reported: prostate cancer |
-0.00295 |
0.000896 |
9.99e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| HbA1C |
-0.0773 |
0.0266 |
0.00364 |
Wald ratio |
1 |
trans |
NA |
| Femoral neck bone mineral density |
0.145 |
0.0544 |
0.00754 |
Wald ratio |
1 |
trans |
NA |
| Birth length |
0.185 |
0.0739 |
0.0122 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
-0.0031 |
0.00126 |
0.0138 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
-0.0031 |
0.00126 |
0.0138 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0142 |
0.00579 |
0.014 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0142 |
0.00579 |
0.014 |
Inverse variance weighted |
2 |
trans |
NA |
| Weight |
0.0214 |
0.00914 |
0.0193 |
Inverse variance weighted |
2 |
cis |
NA |
| …and 156 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2954_56_2 |
MMP-8 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
26 association rows across 19 traits (26 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 |
| MMP8/OLR1 protein level ratio |
2e-1504 |
rs35231465 |
1 |
GCST90315464 |
no MR -> candidate analysis |
| MMP8/MMP9 protein level ratio |
5e-1381 |
rs35231465 |
1 |
GCST90315463 |
no MR -> candidate analysis |
| HGF/MMP8 protein level ratio |
9e-990 |
rs35231465 |
1 |
GCST90315055 |
no MR -> candidate analysis |
| MMP8/TGFA protein level ratio |
2e-920 |
rs35231465 |
1 |
GCST90315466 |
no MR -> candidate analysis |
| MMP8/PGLYRP1 protein level ratio |
3e-857 |
rs35231465 |
1 |
GCST90315465 |
no MR -> candidate analysis |
| LCN2/MMP8 protein level ratio |
6e-852 |
rs35231465 |
1 |
GCST90315305 |
no MR -> candidate analysis |
| Neutrophil collagenase (analyte X9172.69) levels |
5e-238 |
rs1320632 |
1 |
GCST90427676 |
no MR -> candidate analysis |
| MMP1 protein levels |
2e-126 |
rs146135014 |
3 |
GCST90469919 |
no MR -> candidate analysis |
| Neutrophil collagenase levels |
4e-104 |
rs35231465 |
1 |
GCST90248651 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein MMP8 levels |
1e-64 |
rs1320632 |
1 |
GCST90944434 |
no MR -> candidate analysis |
| MMP8 protein levels |
5e-55 |
rs141116762 |
3 |
GCST90469922 |
no MR -> candidate analysis |
| Serum levels of protein MMP8 |
6e-48 |
rs35231465 |
1 |
GCST90090532 |
no MR -> candidate analysis |
| …and 7 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 754 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 |
| response to stimulus |
0.457 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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 |
5 known modulators (Neutrophil collagenase) |
| gnomAD constraint |
pLI=1.2e-28, LOEUF=1.6 — LoF-tolerant |
| GWAS Catalog |
120 unique SNPs / 263 rows |
| ClinVar |
118 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 754 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 ‘MMP8’ and resolved to ‘Neutrophil collagenase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 118 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 19 of 19 traits by best p-value, aggregated from 26 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/P22894 — 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/ENSG00000118113/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4588/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MMP8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MMP8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MMP8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MMP8 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:50:44 · 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