CausalSentinel

Protein Dossier — B4GALT1 (Beta-1,4-galactosyltransferase 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
LDL cholesterol	0.0424	0.0104	4.40e-05	Inverse variance weighted	2	cis	NA
LDL cholesterol	0.0424	0.0104	4.40e-05	Inverse variance weighted	2	trans	NA
Heel bone mineral density (BMD) T-score automated	-0.0318	0.00937	6.80e-04	Inverse variance weighted	2	cis	NA
Heel bone mineral density (BMD) T-score automated	-0.0318	0.00937	6.80e-04	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: H25 Senile cataract	0.212	0.0688	0.00211	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: H25 Senile cataract	0.212	0.0688	0.00211	Inverse variance weighted	2	trans	NA
Non-cancer illness code self-reported: joint disorder	0.236	0.0781	0.00246	Inverse variance weighted	2	cis	NA
Non-cancer illness code self-reported: joint disorder	0.236	0.0781	0.00246	Inverse variance weighted	2	trans	NA
Urate	-0.0554	0.0184	0.00266	Inverse variance weighted	2	cis	NA
Urate	-0.0554	0.0184	0.00266	Inverse variance weighted	2	trans	NA
Forced expiratory volume in 1-second (FEV1)	-0.0153	0.00582	0.00865	Inverse variance weighted	2	cis	NA
Forced expiratory volume in 1-second (FEV1)	-0.0153	0.00582	0.00865	Inverse variance weighted	2	trans	NA
…and 195 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

280 association rows across 170 traits (251 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 B4GALT1 levels	3e-216	rs7019909	4	GCST90860605	no MR -> candidate analysis
B4GALT1 protein levels	5e-203	rs7019909	4	GCST90468412	no MR -> candidate analysis
Bone mineral density mean	1e-201	rs72723030	1	GCST90321120	no MR -> candidate analysis
Beta-1,4-galactosyltransferase 1 levels	2e-80	rs7019909	1	GCST90246639	no MR -> candidate analysis
LYVE1 protein levels	9e-79	rs7865362	1	GCST90469832	no MR -> candidate analysis
Aspartate aminotransferase levels	4e-78	rs7865362	9	GCST90662897	no MR -> candidate analysis
Circulating CD163 levels	3e-76	rs7865362	1	GCST90859926	no MR -> candidate analysis
Height	2e-69	rs7019909	5	GCST90245848	MR: beta=0.0208, p=0.0759 (cis)
Circulating SIGLEC9 levels	3e-67	rs3824458	2	GCST90859658	no MR -> candidate analysis
N-glycosylation (multivariate analysis)	3e-65	rs10971420	1	GCST90671969	no MR -> candidate analysis
SIGLEC9 protein levels	3e-59	rs1969976	1	GCST90470637	no MR -> candidate analysis
ITGAM protein levels	2e-55	rs7865362	1	GCST90469638	no MR -> candidate analysis
…and 158 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 712 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
B4GALT1-congenital disorder of glycosylation	0.744	—	established (curated)	no MR -> candidate analysis
gout	0.778	—	common-variant locus	no MR -> candidate analysis
combined low LDL and fibrinogen	0.547	—	established (curated)	no MR -> candidate analysis
Abnormal mastoid morphology	0.475	—	common-variant locus	no MR -> candidate analysis
middle ear disorder	0.475	—	common-variant locus	no MR -> candidate analysis
tooth disorder	0.459	—	common-variant locus	no MR -> candidate analysis
hyperpituitarism	0.377	—	common-variant locus	no MR -> candidate analysis
response to statin	0.377	—	common-variant locus	no MR -> candidate analysis
hereditary disease	0.316	—	established (curated)	no MR -> candidate analysis

Of the 9 rows above, 9 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 (Beta-1,4-galactosyltransferase 1)
gnomAD constraint	pLI=0.054, LOEUF=0.696 — LoF-tolerant
GWAS Catalog	114 unique SNPs / 282 rows
ClinVar	239 records; 4 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 712 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 ‘B4GALT1’ and resolved to ‘Beta-1,4-galactosyltransferase 1’ — confirm this is the intended target.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 239 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 170 traits by best p-value, aggregated from 280 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/P15291 — 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 v3.0
• phenome: https://platform.opentargets.org/target/ENSG00000086062/associations — Open Targets data release 26.06
• chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4384/ — ChEMBL_37 (released 2026-05-01)
• gnomad: https://gnomad.broadinstitute.org/gene/B4GALT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/B4GALT1 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=B4GALT1%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/B4GALT1 — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T01:15:08 · 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

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