CausalSentinel

Protein Dossier — FUT8 (Alpha-(1,6)-fucosyltransferase)

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
Height -0.0124 0.00343 3.05e-04 Wald ratio 1 cis NA
Non-cancer illness code self-reported: sleep apnoea 0.13 0.0449 0.00384 Wald ratio 1 cis NA
Diagnoses - main ICD10: N81 Female genital prolapse -0.0695 0.0254 0.0062 Wald ratio 1 cis NA
Birth weight -0.0114 0.00419 0.00639 Wald ratio 1 cis NA
Body mass index (BMI) 0.00739 0.00283 0.00908 Wald ratio 1 cis NA
Non-cancer illness code self-reported: osteoporosis -0.0507 0.0239 0.0342 Wald ratio 1 cis NA
Cancer code self-reported: malignant melanoma -0.0727 0.0346 0.0356 Wald ratio 1 cis NA
Non-cancer illness code self-reported: bladder problem (not cancer) 0.071 0.0346 0.0405 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) 0.0268 0.0132 0.0417 Wald ratio 1 cis NA
Years of schooling -0.00953 0.00477 0.0455 Wald ratio 1 cis NA
Non-cancer illness code self-reported: retinal detachment 0.0877 0.0453 0.0528 Wald ratio 1 cis NA
Non-cancer illness code self-reported: polio or poliomyelitis 0.17 0.0922 0.0644 Wald ratio 1 cis NA
…and 79 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

266 association rows across 86 traits (234 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
FUT8 protein levels 6e-248 rs117550570 14 GCST90469281 no MR -> candidate analysis
Percentage of core-fucosylation of trigalactosylated structu 6e-184 rs2411815 2 GCST90668789 no MR -> candidate analysis
N-glycosylation (multivariate analysis) 9e-164 rs1953415 1 GCST90671969 no MR -> candidate analysis
Alpha-(1,6)-fucosyltransferase levels 2e-111 rs6573606 3 GCST90059964 no MR -> candidate analysis
Cerebrospinal fluid protein FUT8 levels 9e-82 rs72716421 1 GCST90943396 no MR -> candidate analysis
Advanced glycosylation end product-specific receptor, solubl 2e-63 rs1958560 2 GCST90246455 no MR -> candidate analysis
Height 6e-49 rs2064695 2 GCST90245848 MR: beta=-0.0124, p=3.05e-04 (cis)
Transferrin N-glycan 20 levels 3e-41 rs2411815 2 GCST90129364 no MR -> candidate analysis
NELL1 protein levels 8e-41 rs11158595 1 GCST90470026 no MR -> candidate analysis
FCGR3B protein levels 3e-40 rs11158592 2 GCST90469202 no MR -> candidate analysis
ERBB4/NELL1 protein level ratio 3e-39 rs2229677 1 GCST90314691 no MR -> candidate analysis
N-glycan levels 5e-37 rs7147636 11 GCST008108 no MR -> candidate analysis
…and 74 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 404 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 disorder of glycosylation with defective fucosylation 0.811 established (curated) no MR -> candidate analysis
Abnormality of the skeletal system 0.688 common-variant locus no MR -> candidate analysis
hereditary disease 0.682 established (curated) no MR -> candidate analysis
gout 0.63 common-variant locus no MR -> candidate analysis
COVID-19 0.049 common-variant locus no MR -> candidate analysis
myopathy 0.561 common-variant locus MR: beta=0.132, p=0.465 (cis)
Genu varum 0.479 common-variant locus no MR -> candidate analysis
Genu valgum 0.479 common-variant locus no MR -> candidate analysis
bladder calculus 0.473 common-variant locus no MR -> candidate analysis
preeclampsia 0.382 common-variant locus no MR -> candidate analysis
cervical carcinoma 0.307 common-variant locus no MR -> candidate analysis
stroke disorder 0.319 common-variant locus no MR -> candidate analysis
alcohol drinking 0.319 common-variant locus no MR -> candidate analysis
glomerulonephritis 0.307 common-variant locus no MR -> candidate analysis
placenta praevia 0.303 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 14 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 (Alpha-(1,6)-fucosyltransferase)
gnomAD constraint pLI=0.34, LOEUF=0.555 — LoF-tolerant
GWAS Catalog 119 unique SNPs / 275 rows
ClinVar 201 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance