Protein Dossier — CHIT1 (Chitotriosidase-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 |
| Knee osteoarthritis |
-0.0785 |
0.0299 |
0.00863 |
Wald ratio |
1 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.0401 |
0.0159 |
0.0117 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
-0.0527 |
0.0223 |
0.0182 |
Wald ratio |
1 |
cis |
NA |
| Microalbuminuria |
-0.0519 |
0.0228 |
0.0226 |
Wald ratio |
1 |
cis |
NA |
| Urinary albumin-to-creatinine ratio |
-0.0146 |
0.00656 |
0.0263 |
Wald ratio |
1 |
cis |
NA |
| HOMA-IR |
-0.01 |
0.00455 |
0.0278 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
0.0815 |
0.0373 |
0.0287 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.0443 |
0.0205 |
0.0309 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.00874 |
0.00428 |
0.0411 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.0712 |
0.0349 |
0.0416 |
Wald ratio |
1 |
cis |
NA |
| Type 2 diabetes |
0.0269 |
0.0135 |
0.0468 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: psoriasis |
0.0481 |
0.0245 |
0.0495 |
Wald ratio |
1 |
cis |
NA |
| …and 114 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-3600_2_3 |
Chitotriosidase-1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
94 association rows across 34 traits (83 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 CHIT1 levels |
2e-6802 |
rs872583 |
6 |
GCST90859952 |
no MR -> candidate analysis |
| Circulating CHI3L1 levels |
8e-2951 |
rs10920579 |
1 |
GCST90859978 |
no MR -> candidate analysis |
| Chitotriosidase-1 levels |
1e-1520 |
rs872583 |
18 |
GCST90247010 |
no MR -> candidate analysis |
| Chitinase-3-like protein 1 levels |
5e-1391 |
rs4950931 |
10 |
GCST90012039 |
no MR -> candidate analysis |
| Chitotriosidase-1 levels (CHIT1.3600.2.3) |
1e-432 |
rs872583 |
2 |
GCST90240684 |
no MR -> candidate analysis |
| Blood protein levels |
1e-313 |
rs872583 |
3 |
GCST006585 |
no MR -> candidate analysis |
| CHIT1 protein levels |
7e-288 |
rs11586183 |
10 |
GCST90468744 |
no MR -> candidate analysis |
| CHI3L1 protein levels |
9e-287 |
rs76499133 |
13 |
GCST90468743 |
no MR -> candidate analysis |
| Blood protein levels in cardiovascular risk |
2e-236 |
rs2153101 |
1 |
GCST009731 |
no MR -> candidate analysis |
| Chitinase-3-like protein 1 levels (CHI3L1.11104.13.3) |
7e-168 |
rs10399805 |
2 |
GCST90240682 |
no MR -> candidate analysis |
| Serum levels of protein CHIT1 |
8e-156 |
rs73068228 |
2 |
GCST90086282 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein CHIT1 levels |
7e-97 |
rs73068228 |
1 |
GCST90944709 |
no MR -> candidate analysis |
| …and 22 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 441 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 |
| chitotriosidase deficiency |
0.333 |
— |
established (curated) |
no MR -> candidate analysis |
| asthma |
0.311 |
— |
common-variant locus |
MR: beta=0.00603, p=0.427 (cis) |
| childhood onset asthma |
0.216 |
— |
common-variant locus |
no MR -> candidate analysis |
| atrial fibrillation |
0.175 |
— |
common-variant locus |
no MR -> candidate analysis |
| lower respiratory tract disorder |
0.15 |
— |
common-variant locus |
no MR -> candidate analysis |
| Chronic Obstructive Asthma |
0.109 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 5 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 (Chitotriosidase-1) |
| gnomAD constraint |
pLI=5e-15, LOEUF=1.15 — LoF-tolerant |
| GWAS Catalog |
124 unique SNPs / 289 rows |
| ClinVar |
270 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 441 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 ‘CHIT1’ and resolved to ‘Chitotriosidase-1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 270 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 34 traits by best p-value, aggregated from 94 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/Q13231 — 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/ENSG00000133063/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3080/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CHIT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CHIT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CHIT1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CHIT1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:50:39 · 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