CausalSentinel

Protein Dossier — FGF7 (Fibroblast growth factor 7)

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
Fracture resulting from simple fall -0.0868 0.0385 0.0242 Wald ratio 1 trans NA
Diagnoses - main ICD10: R55 Syncope and collapse 0.246 0.112 0.0283 Wald ratio 1 trans NA
Body mass index (BMI) 0.028 0.0133 0.036 Wald ratio 1 trans NA
Non-cancer illness code self-reported: retinal detachment 0.345 0.17 0.0427 Wald ratio 1 trans NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter 0.247 0.127 0.0511 Wald ratio 1 trans NA
Alzheimer’s disease -0.164 0.0873 0.0606 Wald ratio 1 trans NA
Sleep duration -0.0195 0.0104 0.0609 Wald ratio 1 trans NA
Cancer code self-reported: basal cell carcinoma 0.213 0.114 0.0621 Wald ratio 1 trans NA
Diagnoses - main ICD10: R35 Polyuria 0.29 0.165 0.0796 Wald ratio 1 trans NA
Non-cancer illness code self-reported: pernicious anaemia 0.319 0.186 0.0867 Wald ratio 1 trans NA
Non-cancer illness code self-reported: osteoporosis -0.236 0.139 0.0888 Wald ratio 1 trans NA
Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] -0.245 0.146 0.0926 Wald ratio 1 trans NA
…and 68 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-4487_1_1 FGF7 Suhre K 2019

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

22 association rows across 14 traits (21 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
Nontoxic multinodular goiter (PheCode 241.2) 2e-104 rs4338740 3 GCST90479861 no MR -> candidate analysis
TG protein levels 1e-36 rs4338740 1 GCST90470851 no MR -> candidate analysis
Circulating TSHB levels 5e-34 rs10519226 1 GCST90860403 no MR -> candidate analysis
Nontoxic nodular goiter (PheCode 241) 4e-29 rs4338740 1 GCST90475637 no MR -> candidate analysis
Simple and unspecified goiter (PheCode 240) 3e-26 rs12592277 2 GCST90479859 no MR -> candidate analysis
Lung adenocarcinoma 3e-14 rs71467682 2 GCST90297562 MR: beta=0.116, p=0.44 (trans)
Creatinine levels (UKB data field 30700) 6e-14 rs28375625 1 GCST90468067 no MR -> candidate analysis
Thyroid volume 3e-13 rs4338740 2 GCST001069 no MR -> candidate analysis
Circulating GAL levels 1e-12 rs11639111 1 GCST90860395 no MR -> candidate analysis
Hyperthyroidism 3e-12 rs4338740 2 GCST90018860 MR: beta=0.174, p=0.191 (trans)
Thyroid hormone levels 1e-11 rs10519227 2 GCST001856 no MR -> candidate analysis
Hypothyroidism 3e-10 rs200066768 2 GCST90627749 no MR -> candidate analysis
…and 2 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 1982 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
hypothyroidism 0.719 common-variant locus no MR -> candidate analysis
goiter 0.681 common-variant locus no MR -> candidate analysis
multinodular goiter 0.649 common-variant locus no MR -> candidate analysis
thyrotoxicosis 0.631 common-variant locus MR: beta=0.174, p=0.191 (trans)
nontoxic goiter 0.564 common-variant locus no MR -> candidate analysis
toxic multinodular goitre 0.543 common-variant locus no MR -> candidate analysis
basal cell carcinoma 0.469 common-variant locus MR: beta=0.213, p=0.0621 (trans)
asthma 0.443 common-variant locus MR: beta=0.0308, p=0.396 (trans)
oral cavity cancer 0.423 common-variant locus no MR -> candidate analysis
human papilloma virus infection 0.423 common-variant locus no MR -> candidate analysis
irritable bowel syndrome 0.365 common-variant locus no MR -> candidate analysis
hyperthyroidism 0.333 common-variant locus MR: beta=0.174, p=0.191 (trans)
thyroid gland disorder 0.305 common-variant locus no MR -> candidate analysis
Graves disease 0.224 common-variant locus no MR -> candidate analysis
nodular goiter 0.211 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 11 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 (Fibroblast growth factor 7)
gnomAD constraint pLI=0.9, LOEUF=0.577 — LoF-INTOLERANT
GWAS Catalog 52 unique SNPs / 101 rows
ClinVar 47 records; 6 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance