CausalSentinel

Protein Dossier — BPI (Bactericidal permeability-increasing protein)

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
Endometrioid ovarian cancer -0.142 0.0671 0.0346 Wald ratio 1 cis NA
Clear cell ovarian cancer -0.195 0.0935 0.0373 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus -0.118 0.0572 0.0389 Wald ratio 1 cis NA
Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation -0.0903 0.0438 0.0393 Wald ratio 1 cis NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter -0.166 0.0813 0.0408 Wald ratio 1 cis NA
Thalamus volume -29.1 14.4 0.0427 Wald ratio 1 cis NA
Non-cancer illness code self-reported: uterine fibroids -0.104 0.0516 0.0436 Wald ratio 1 cis NA
Serum cystatin C (eGFRcys) 0.00962 0.00497 0.0527 Wald ratio 1 cis NA
Caudate volume 21.3 11.2 0.0568 Wald ratio 1 cis NA
Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions 0.14 0.0743 0.0602 Wald ratio 1 cis NA
Systolic blood pressure automated reading -0.0108 0.00587 0.0653 Wald ratio 1 cis NA
Fasting proinsulin -0.0341 0.0186 0.0668 Wald ratio 1 cis NA
…and 85 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-4126_22_1 BPI Suhre K 2019

3. GWAS Catalog results — traits with signal at this locus

55 association rows across 27 traits (50 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
Bactericidal permeability-increasing protein levels 5e-231 rs6127742 8 GCST90246731 no MR -> candidate analysis
Serum levels of protein BPI 4e-180 rs1780617 4 GCST90088584 no MR -> candidate analysis
Blood protein levels 9e-113 rs1780617 3 GCST006585 no MR -> candidate analysis
Serum levels of protein MUL1 9e-98 rs1780617 4 GCST90090625 no MR -> candidate analysis
Bactericidal permeability-increasing protein levels (BPI.412 1e-67 rs1780617 3 GCST90240373 no MR -> candidate analysis
LBP protein levels 2e-37 rs1205422 4 GCST90469743 no MR -> candidate analysis
Lipopolysaccharide-binding protein levels 3e-29 rs2232575 2 GCST90161628 no MR -> candidate analysis
Mitochondrial ubiquitin ligase activator of NFKB 1 levels (M 4e-26 rs11086556 2 GCST90241945 no MR -> candidate analysis
RETN protein levels 4e-25 rs6069597 1 GCST90470457 no MR -> candidate analysis
Circulating RETN levels 1e-19 rs6064367 4 GCST90859950 no MR -> candidate analysis
Monocyte percentage (UKB data field 30190) 3e-15 rs6123584 1 GCST90468091 no MR -> candidate analysis
Monocyte percentage of white cells 7e-15 rs5743511 2 GCST90002394 no MR -> candidate analysis
…and 15 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 281 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
retinal degeneration 0.463 common-variant locus no MR -> candidate analysis
alcohol drinking 0.407 common-variant locus no MR -> candidate analysis
asthma 0.395 common-variant locus no MR -> candidate analysis
acute tonsillitis 0.395 common-variant locus no MR -> candidate analysis

Of the 4 rows above, 4 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=3.4e-14, LOEUF=1.06 — LoF-tolerant
GWAS Catalog 107 unique SNPs / 210 rows
ClinVar 109 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance