CausalSentinel

Protein Dossier — SNCA (Alpha-synuclein)

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
Neuroticism -0.0718 0.016 6.80e-06 Wald ratio 1 cis NA
Weight 0.0332 0.0105 0.00154 Wald ratio 1 cis NA
Parkinson’s disease 0.652 0.209 0.00184 Wald ratio 1 cis NA
Lung adenocarcinoma 0.436 0.148 0.00315 Wald ratio 1 cis NA
Lung cancer 0.254 0.0934 0.0065 Wald ratio 1 cis NA
Diagnoses - main ICD10: I83 Varicose veins of lower extremities 0.175 0.07 0.0127 Wald ratio 1 cis NA
HbA1C -0.0387 0.0164 0.018 Wald ratio 1 cis NA
Non-cancer illness code self-reported: gout 0.186 0.0833 0.0256 Wald ratio 1 cis NA
Primary sclerosing cholangitis -0.336 0.152 0.0265 Wald ratio 1 cis NA
Diagnoses - main ICD10: R11 Nausea and vomiting 0.306 0.143 0.0321 Wald ratio 1 cis NA
Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis 0.278 0.135 0.0393 Wald ratio 1 cis NA
Triglycerides -0.0455 0.0223 0.0418 Wald ratio 1 cis NA
…and 96 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

121 association rows across 51 traits (99 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
Parkinson’s disease 4e-170 rs356182 39 GCST90308590 MR: beta=0.652, p=0.00184 (cis)
Parkinson’s disease or first degree relation to individual w 4e-154 rs356182 4 GCST009325 no MR -> candidate analysis
Serum levels of protein SNCA 2e-47 rs2245801 2 GCST90090202 no MR -> candidate analysis
Parkinson disease (MTAG) 6e-41 rs356219 2 GCST90256604 no MR -> candidate analysis
Blood protein levels 8e-30 rs1372518 2 GCST006585 no MR -> candidate analysis
Lewy body dementia (MTAG) 3e-26 rs1372518 1 GCST90133379 no MR -> candidate analysis
Insomnia 2e-19 rs356179 15 GCST90131901 no MR -> candidate analysis
Dementia with Lewy bodies 3e-17 rs7680557 4 GCST90001390 no MR -> candidate analysis
Alpha-synuclein levels (SNCA.8458.111.3) 1e-16 rs2245801 1 GCST90240258 no MR -> candidate analysis
REM sleep behavior disorder (probable or isolated) 3e-16 rs3756059 1 GCST90244078 no MR -> candidate analysis
REM sleep behavior disorder in Parkinson’s disease 2e-15 rs10005233 2 GCST90269977 no MR -> candidate analysis
Drinks per week 2e-14 rs2619364 1 GCST90243989 no MR -> candidate analysis
…and 39 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 801 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
Hereditary late-onset Parkinson disease 0.859 established (curated) no MR -> candidate analysis
Young adult-onset Parkinsonism 0.878 established (curated) no MR -> candidate analysis
Lewy body dementia 0.816 established (curated) no MR -> candidate analysis
Parkinson disease 0.856 established (curated) no MR -> candidate analysis
insomnia 0.63 common-variant locus no MR -> candidate analysis
REM sleep behavior disorder 0.61 common-variant locus no MR -> candidate analysis
parkinsonian-pyramidal syndrome 0.608 established (curated) no MR -> candidate analysis
Abnormality of the skeletal system 0.552 common-variant locus no MR -> candidate analysis
Anxiety 0.517 common-variant locus no MR -> candidate analysis
Cachexia 0.512 common-variant locus no MR -> candidate analysis
benign chondrogenic neoplasm 0.484 common-variant locus no MR -> candidate analysis
schizophrenia 0.458 common-variant locus no MR -> candidate analysis
disease of genitourinary system 0.456 common-variant locus no MR -> candidate analysis
vitiligo 0.427 common-variant locus no MR -> candidate analysis
neurotic disorder 0.412 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 15 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 2 known modulators (Alpha-synuclein)
gnomAD constraint pLI=0.48, LOEUF=0.715 — LoF-tolerant
GWAS Catalog 93 unique SNPs / 151 rows
ClinVar 206 records; 6 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance