genetics
Which mitochondrial genes may drive IBD risk?
Open access · cc by · source: Europe PMC
Integrating methylation, expression, and protein QTLs via MR/colocalization flags PARK7 and ACADM as tier-1 mitochondrial genes for IBD/UC, with protective protein-level odds ratios.
Study at a glance
- Design
- Computational / modelling — Multi-omics Mendelian randomization + colocalization of mitochondrial QTLs vs IBD
- N
- N=2 · Two tier-1 mitochondrial genes (PARK7, ACADM); discovery IBDGC with UKB/FinnGen replication
- Population
- Genetic instruments from mQTL/eQTL/pQTL studies vs IBD/UC/CD GWAS
- Outcome
- Putative causal mitochondrial gene–IBD associations across omics layers
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Key findings
PARK7 and ACADM had tier-1 multi-omic support for IBD/UC; PDK1 and FIS1 had weaker UC tiers. Higher genetically predicted PARK7 (OR 0.36) and HINT1 (OR 0.47) associated with lower IBD risk; higher HINT1 with lower CD (OR 0.26); higher ACADM/PDK1/FIS1 with lower UC.
Methodology
Used summary-data MR on mitochondrial gene methylation, expression, and protein QTLs against IBDGC (discovery) plus UK Biobank and FinnGen (replication), with colocalization to test shared causal variants.
Limitations
MR associations are not clinical proof that modulating these proteins treats IBD; horizontal pleiotropy and cohort differences remain risks.
How this study connects
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