CausalSentinel

Protein Dossier — NQO2 (Ribosyldihydronicotinamide dehydrogenase [quinone])

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
Amygdala volume -12.3 6.28 0.0511 Wald ratio 1 cis NA
Eczema -0.0809 0.0448 0.071 Wald ratio 1 cis NA
Schizophrenia 0.0471 0.0274 0.085 Wald ratio 1 cis NA
Thalamus volume -23 16.6 0.166 Wald ratio 1 cis NA
Pallidum volume -5.77 5.11 0.259 Wald ratio 1 cis NA
Low grade serous ovarian cancer 0.138 0.123 0.26 Wald ratio 1 cis NA
Femoral neck bone mineral density -0.041 0.0384 0.286 Wald ratio 1 cis NA
ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) 0.0202 0.0191 0.289 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0303 0.029 0.295 Wald ratio 1 cis NA
Lung cancer 0.0469 0.0464 0.312 Wald ratio 1 cis NA
Lung adenocarcinoma 0.0714 0.071 0.315 Wald ratio 1 cis NA
Intracranial volume 4.65e+03 5.07e+03 0.359 Wald ratio 1 cis NA
…and 5 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

29 association rows across 13 traits (27 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
Ribosyldihydronicotinamide dehydrogenase [quinone] levels 5e-803 rs138616686 5 GCST90249391 no MR -> candidate analysis
Ribosyldihydronicotinamide dehydrogenase [quinone] levels (N 5e-181 rs138616686 4 GCST90242679 no MR -> candidate analysis
Urine isoxanthopterin levels in chronic kidney disease 1e-161 rs6913474 1 GCST90265420 no MR -> candidate analysis
Serum levels of protein NQO2 2e-119 rs6913474 3 GCST90090801 no MR -> candidate analysis
Urinary metabolite levels in chronic kidney disease 3e-88 rs6913474 2 GCST009733 no MR -> candidate analysis
Urine pterin levels in chronic kidney disease 6e-76 rs6913474 1 GCST90265884 no MR -> candidate analysis
Blood protein levels 4e-64 rs138616686 1 GCST006585 no MR -> candidate analysis
Metabolite levels (pterin) 1e-36 rs12200513 2 GCST90301166 no MR -> candidate analysis
S-arrestin levels 2e-32 rs2756078 1 GCST90425311 no MR -> candidate analysis
Protein quantitative trait loci (liver) 2e-25 rs3823096 6 GCST011427 no MR -> candidate analysis
Prenylcysteine oxidase-like protein levels (SomaScan ID:9754 9e-15 rs4149358 1 GCST90443407 no MR -> candidate analysis
Early-onset Alzheimer’s disease 2e-6 rs1963159 1 GCST90558102 no MR -> candidate analysis
…and 1 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 191 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
intermediate coronary syndrome 0.234 common-variant locus no MR -> candidate analysis

Of the 1 rows above, 1 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 (Ribosyldihydronicotinamide dehydrogenase [quinone])
gnomAD constraint pLI=6.5e-06, LOEUF=1.21 — LoF-tolerant
GWAS Catalog 59 unique SNPs / 115 rows
ClinVar 106 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx 1 clinical annotations across 2 drugs

Caveats declared by the tools

Sources

Provenance