ArticleKidney diseases (Basel, Switzerland)
Identification of Potential Oxidative Stress-Related Causal Genes for Calculus of Kidney and Ureter: A Multi-Omics Mendelian Randomization Analysis.
Article in Kidney diseases (Basel, Switzerland). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Oxidative stress contributes to kidney and ureteral calculi, but the specific genes and mechanisms remain unclear. This study integrates methylation quantitative trait loci (mQTL), expression QTL (eQTL), and protein QTL (pQTL) data with genome-wide association study (GWAS) data to identify oxidative stress-related genes linked to calculi. Methods: Summary data-based mendelian randomization (SMR) and colocalization analyses were performed using GWAS data from FinnGen (discovery) and UK Biobank (UKB; validation) to identify oxidative stress-related genes associated with calculus risk. External validation employed a genetic hypercalciuric stone-forming (GHS) rat transcriptomic dataset. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses, together with protein-protein interaction (PPI) network, were used to characterize functional pathways and central regulators. Results: SMR and colocalization analyses in FinnGen identified 172 mQTLs, 27 eQTLs, and 5 pQTLs associated with calculus risk, with subsets validated in UKB. Multi-omics integration highlighted Conclusion: Oxidative stress-related genes, particularly
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