CausalSentinel

Protein Dossier — CHI3L1 (Chitinase-3-like protein 1)

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
Non-cancer illness code self-reported: asthma -0.0195 0.00674 0.00386 Wald ratio 1 cis NA
Non-cancer illness code self-reported: retinal detachment 0.081 0.0379 0.0328 Wald ratio 1 cis NA
Fracture resulting from simple fall 0.0131 0.00616 0.0337 Wald ratio 1 cis NA
Non-cancer illness code self-reported: joint disorder -0.0777 0.0373 0.037 Wald ratio 1 cis NA
Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone 0.0509 0.0253 0.0447 Wald ratio 1 cis NA
Sodium in urine 0.00451 0.00232 0.052 Wald ratio 1 cis NA
Forced expiratory volume in 1-second (FEV1) 0.00385 0.00204 0.0591 Wald ratio 1 cis NA
Intracranial volume -3.3e+03 1.86e+03 0.0762 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hayfever or allergic rhinitis -0.0169 0.00987 0.0872 Wald ratio 1 cis NA
Eye problems or disorders: Glaucoma 0.0311 0.0191 0.104 Wald ratio 1 cis NA
Diagnoses - main ICD10: B37 Candidiasis 0.156 0.0972 0.108 Wald ratio 1 cis NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level 0.151 0.0974 0.121 Wald ratio 1 cis NA
…and 45 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

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

60 association rows across 27 traits (56 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 CHI3L1 levels 8e-2951 rs10920579 2 GCST90859978 no MR -> candidate analysis
Chitinase-3-like protein 1 levels 1e-2203 rs2071579 13 GCST90247006 no MR -> candidate analysis
CHI3L1/HSPG2 protein level ratio 2e-1839 rs4950928 1 GCST90314043 no MR -> candidate analysis
CHI3L1/PRSS8 protein level ratio 2e-1731 rs4950928 1 GCST90314044 no MR -> candidate analysis
CD55/CHI3L1 protein level ratio 1e-1726 rs4950928 1 GCST90313845 no MR -> candidate analysis
Chitinase-3-like protein 1 levels (CHI3L1.11104.13.3) 7e-746 rs10920578 4 GCST90240682 no MR -> candidate analysis
Blood protein levels 2e-426 rs903357 2 GCST006585 no MR -> candidate analysis
Blood protein levels in cardiovascular risk 2e-236 rs2153101 1 GCST009731 no MR -> candidate analysis
Chitotriosidase-1 levels 3e-196 rs2494297 5 GCST90425825 no MR -> candidate analysis
CHI3L1 protein levels 1e-173 rs12410110 9 GCST90468743 no MR -> candidate analysis
Circulating CHIT1 levels 4e-123 rs183979623 2 GCST90859952 no MR -> candidate analysis
CH3L1 protein level (protein group normalized intensity) 2e-93 rs880633 1 GCST90570726 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 977 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
schizophrenia 0.195 established (curated) no MR -> candidate analysis
asthma 0.355 established (curated) MR: beta=-0.0195, p=0.00386 (cis)
childhood onset asthma 0.276 common-variant locus no MR -> candidate analysis
lower respiratory tract disorder 0.237 common-variant locus no MR -> candidate analysis
chronic obstructive pulmonary disease 0.053 common-variant locus no MR -> candidate analysis

Of the 5 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 0 known modulators (Chitinase-3-like protein 1)
gnomAD constraint pLI=3.4e-08, LOEUF=0.999 — LoF-tolerant
GWAS Catalog 123 unique SNPs / 268 rows
ClinVar 124 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance