CausalSentinel

Protein Dossier — CSF2RB (Cytokine receptor common subunit beta)

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
Amyotrophic lateral sclerosis -0.169 0.057 0.00301 Wald ratio 1 cis NA
2hr glucose 0.171 0.0602 0.00448 Wald ratio 1 cis NA
Fractured bone site(s): Wrist 0.118 0.0487 0.0151 Wald ratio 1 cis NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter 0.183 0.0764 0.0165 Wald ratio 1 cis NA
Alzheimer’s disease -0.117 0.0494 0.0183 Wald ratio 1 cis NA
Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt 0.167 0.0723 0.021 Wald ratio 1 cis NA
Schizophrenia -0.0785 0.0342 0.0217 Wald ratio 1 cis NA
Hip osteoarthritis 0.196 0.086 0.0227 Wald ratio 1 cis NA
Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse 0.19 0.0866 0.0284 Wald ratio 1 cis NA
Fasting proinsulin 0.0475 0.0228 0.0372 Wald ratio 1 cis NA
Endometrioid ovarian cancer 0.191 0.092 0.0374 Wald ratio 1 cis NA
Bulimia nervosa 0.0443 0.0222 0.0455 Wald ratio 1 cis NA
…and 91 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

102 association rows across 38 traits (92 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
Cytokine receptor common subunit beta levels 6e-850 rs5756415 1 GCST90247148 no MR -> candidate analysis
Serum levels of protein CSF2RB 2e-204 rs1534881 1 GCST90086315 no MR -> candidate analysis
CSF2RB protein levels 2e-120 rs7292430 27 GCST90468883 no MR -> candidate analysis
Blood protein levels 1e-100 rs5756414 1 GCST006585 no MR -> candidate analysis
PVALB protein levels 1e-69 rs770332956 10 GCST90470393 no MR -> candidate analysis
Atopic dermatitis 5e-50 rs4821569 7 GCST90244787 no MR -> candidate analysis
Eosinophil count 1e-45 rs117582568 10 GCST90002299 no MR -> candidate analysis
Cytokine receptor common subunit beta level in Chronic kidne 2e-41 rs5756414 1 GCST90232896 no MR -> candidate analysis
Basophil count 2e-38 rs117582568 3 GCST90002293 no MR -> candidate analysis
Cytokine receptor common subunit beta levels (CSF2RB.10512.1 3e-38 rs1534881 1 GCST90240859 no MR -> candidate analysis
Oncostatin-M-specific receptor subunit beta protein levels ( 5e-27 rs5756415 1 GCST90439860 no MR -> candidate analysis
Cerebrospinal fluid protein CSF2RB levels 7e-25 rs2239749 1 GCST90943238 no MR -> candidate analysis
…and 26 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 626 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
Congenital pulmonary alveolar proteinosis 0.721 established (curated) no MR -> candidate analysis
Crohn disease 0.581 common-variant locus no MR -> candidate analysis
atopic eczema 0.676 common-variant locus no MR -> candidate analysis
dermatitis 0.647 common-variant locus no MR -> candidate analysis
hereditary pulmonary alveolar proteinosis 0.608 established (curated) no MR -> candidate analysis
psoriasis 0.543 common-variant locus MR: beta=-0.0892, p=0.261 (cis)
Eczematoid dermatitis 0.522 common-variant locus no MR -> candidate analysis
inflammatory bowel disease 0.513 common-variant locus no MR -> candidate analysis
psoriasis vulgaris 0.473 common-variant locus no MR -> candidate analysis

Of the 9 rows above, 8 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 1 known modulators (Innate repair receptor)
gnomAD constraint pLI=1, LOEUF=0.468 — LoF-INTOLERANT
GWAS Catalog 119 unique SNPs / 290 rows
ClinVar 907 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance