Protein Dossier — MFGE8 (Lactadherin)
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 |
| Creatinine (enzymatic) in urine |
0.0274 |
0.0104 |
0.00874 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0224 |
0.00894 |
0.0121 |
Wald ratio |
1 |
cis |
NA |
| Mean platelet volume |
0.0178 |
0.00755 |
0.0186 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
0.221 |
0.098 |
0.0238 |
Wald ratio |
1 |
cis |
NA |
| Urinary albumin-to-creatinine ratio |
0.0577 |
0.0262 |
0.0276 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
0.0235 |
0.0111 |
0.0336 |
Wald ratio |
1 |
cis |
NA |
| Squamous cell lung cancer |
0.243 |
0.116 |
0.037 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Wrist |
0.139 |
0.0681 |
0.0411 |
Wald ratio |
1 |
cis |
NA |
| LDL cholesterol |
0.0488 |
0.024 |
0.0416 |
Wald ratio |
1 |
cis |
NA |
| Platelet count |
-8.13 |
4.01 |
0.0424 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
0.0221 |
0.0112 |
0.0479 |
Wald ratio |
1 |
cis |
NA |
| Lung cancer |
0.151 |
0.0772 |
0.0505 |
Wald ratio |
1 |
cis |
NA |
| …and 108 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4455_89_2 |
MFGM |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
42 association rows across 20 traits (39 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 MFGE8 levels |
2e-699 |
rs34239095 |
3 |
GCST90860588 |
no MR -> candidate analysis |
| Height |
1e-107 |
rs12440803 |
6 |
GCST90245848 |
MR: beta=0.0275, p=0.215 (cis) |
| Lactadherin levels |
1e-102 |
rs34239095 |
4 |
GCST90248226 |
no MR -> candidate analysis |
| Serum levels of protein MFGE8 |
1e-39 |
rs12911703 |
2 |
GCST90088696 |
no MR -> candidate analysis |
| Height (baseline) |
6e-39 |
rs11632935 |
3 |
GCST90565843 |
no MR -> candidate analysis |
| MFGE8 protein levels |
6e-37 |
rs117217783 |
4 |
GCST90469900 |
no MR -> candidate analysis |
| Blood protein levels |
4e-26 |
rs12898558 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Alkaline phosphatase (UKB data field 30610) |
1e-23 |
rs12911703 |
1 |
GCST90468060 |
no MR -> candidate analysis |
| Standing height (UKB data field 50) |
5e-21 |
rs12440803 |
2 |
GCST90468178 |
no MR -> candidate analysis |
| Liver enzyme levels (alkaline phosphatase) |
7e-20 |
rs34239095 |
1 |
GCST90013406 |
no MR -> candidate analysis |
| Lactadherin levels (MFGE8.4455.89.2) |
3e-19 |
rs1961839 |
1 |
GCST90241726 |
no MR -> candidate analysis |
| Physical function (baseline) |
1e-16 |
rs28384224 |
2 |
GCST90565837 |
no MR -> candidate analysis |
| …and 8 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 566 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 |
| angina pectoris |
0.535 |
— |
common-variant locus |
no MR -> candidate analysis |
| myocardial ischemia |
0.521 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary atherosclerosis |
0.485 |
— |
common-variant locus |
no MR -> candidate analysis |
| intermediate coronary syndrome |
0.476 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery bypass |
0.471 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetic ketoacidosis |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| gastroparesis |
0.315 |
— |
common-variant locus |
no MR -> candidate analysis |
| schizophrenia |
0.303 |
— |
common-variant locus |
MR: beta=0.0875, p=0.0707 (cis) |
| cardiovascular disorder |
0.17 |
— |
common-variant locus |
no MR -> candidate analysis |
| myocardial infarction |
0.156 |
— |
common-variant locus |
MR: beta=-0.0383, p=0.411 (cis) |
| coronary artery disorder |
0.122 |
— |
common-variant locus |
no MR -> candidate analysis |
| percutaneous transluminal coronary angioplasty |
0.127 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 12 rows above, 10 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 (Lactadherin) |
| gnomAD constraint |
pLI=5.9e-10, LOEUF=1.06 — LoF-tolerant |
| GWAS Catalog |
127 unique SNPs / 308 rows |
| ClinVar |
132 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 566 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 ‘MFGE8’ and resolved to ‘Lactadherin’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 132 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 20 traits by best p-value, aggregated from 42 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/Q08431 — 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/ENSG00000140545/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3713343/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MFGE8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MFGE8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MFGE8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MFGE8 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:47:04 · 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