Protein Dossier — IL1R1 (Interleukin-1 receptor type 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 |
0.242 |
0.0356 |
1.01e-11 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.185 |
0.0555 |
8.79e-04 |
Wald ratio |
1 |
cis |
NA |
| Internalizing problems |
0.46 |
0.151 |
0.00233 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
-0.215 |
0.0706 |
0.00234 |
Wald ratio |
1 |
cis |
NA |
| Childhood intelligence |
-0.253 |
0.0871 |
0.00371 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
0.265 |
0.105 |
0.0115 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0314 |
0.0133 |
0.0181 |
Wald ratio |
1 |
cis |
NA |
| Mean cell volume |
0.391 |
0.168 |
0.0201 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
0.261 |
0.113 |
0.0211 |
Wald ratio |
1 |
cis |
NA |
| Mean cell haemoglobin |
0.145 |
0.0663 |
0.0282 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
0.216 |
0.1 |
0.0308 |
Wald ratio |
1 |
cis |
NA |
| Knee and hip osteoarthritis |
-0.315 |
0.148 |
0.033 |
Wald ratio |
1 |
cis |
NA |
| …and 106 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2991_9_2 |
IL-1 sRI |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
121 association rows across 68 traits (105 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 IL1RL2 levels |
3e-1790 |
rs3917265 |
2 |
GCST90859762 |
no MR -> candidate analysis |
| Circulating IL1R1 levels |
2e-207 |
rs956730 |
8 |
GCST90859959 |
no MR -> candidate analysis |
| IL1R1 protein levels |
1e-176 |
rs3917238 |
4 |
GCST90469571 |
no MR -> candidate analysis |
| Circulating IL1R2 levels |
4e-124 |
rs115860741 |
2 |
GCST90859972 |
no MR -> candidate analysis |
| IL1RL1 protein levels |
3e-106 |
rs10203724 |
2 |
GCST90469574 |
no MR -> candidate analysis |
| IL1R2 protein levels |
2e-103 |
rs11883987 |
9 |
GCST90469572 |
no MR -> candidate analysis |
| Interleukin-1 receptor-like 2 levels |
9e-82 |
rs3917265 |
4 |
GCST90248052 |
no MR -> candidate analysis |
| Interleukin-1 receptor type 1 levels |
9e-64 |
rs7587167 |
4 |
GCST90425563 |
no MR -> candidate analysis |
| Serum levels of protein IL1RL2 |
7e-60 |
rs3917265 |
2 |
GCST90088174 |
no MR -> candidate analysis |
| IL1RL2 protein levels |
2e-55 |
rs41294844 |
2 |
GCST90469575 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
4e-48 |
rs67985128 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein IL1R1 levels |
5e-42 |
rs11685537 |
1 |
GCST90944793 |
no MR -> candidate analysis |
| …and 56 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 1305 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 |
| Ascending aortic dissection |
0.745 |
— |
established (curated) |
no MR -> candidate analysis |
| asthma |
0.635 |
— |
common-variant locus |
MR: beta=0.242, p=1.01e-11 (cis) |
| inflammatory bowel disease |
0.665 |
— |
common-variant locus |
MR: beta=-0.0575, p=0.394 (cis) |
| gout |
0.532 |
— |
common-variant locus |
no MR -> candidate analysis |
| chronic recurrent multifocal osteomyelitis 3 |
0.547 |
— |
established (curated) |
no MR -> candidate analysis |
| ulcerative colitis |
0.505 |
— |
common-variant locus |
MR: beta=-0.141, p=0.0965 (cis) |
| coronary artery disorder |
0.443 |
— |
common-variant locus |
no MR -> candidate analysis |
| intestinal obstruction |
0.448 |
— |
common-variant locus |
no MR -> candidate analysis |
| ischemic stroke |
0.443 |
— |
common-variant locus |
MR: beta=0.0908, p=0.4 (cis) |
Of the 9 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 |
3 known modulators (Interleukin-1 receptor type 1) |
| gnomAD constraint |
pLI=0.07, LOEUF=0.626 — LoF-tolerant |
| GWAS Catalog |
151 unique SNPs / 370 rows |
| ClinVar |
81 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1305 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 ‘IL1R1’ and resolved to ‘Interleukin-1 receptor type 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 81 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 68 traits by best p-value, aggregated from 121 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/P14778 — 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/ENSG00000115594/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1959/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IL1R1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IL1R1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IL1R1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IL1R1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:13:43 · 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