Assessment of mitochondrial gene regulation across methylation, expression, and protein levels to identify causal candidates for kidney stone disease.
Key Takeaways
- Multi-omics SMR integrated GWAS, mQTL, eQTL, and pQTL data to link mitochondrial genes to urolithiasis risk
- FXN emerged as a prioritized mitochondrial gene showing colocalized signals across molecular layers for nephrolithiasis
- FinnGen and UK Biobank datasets were used to validate genetic associations with kidney and ureter calculus risk