CausalSentinel

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)              

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)          

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

Caveats declared by the tools

Sources

Provenance