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Genetic variants predisposing to an increased risk of kidney stone disease

15 May 2025

Abstract excerpt

BACKGROUNDKidney stone disease (KSD) affects approximately 10% of adults, is heritable, and is associated with mineral metabolic abnormalities.METHODSGenetic variants and pathways increasing KSD risk via calcium and phosphate homeostasis were ascertained using GWAS, region-specific Mendelian randomization (MR), and genetic colocalization. The utility of pathway modulation was estimated via drug target MR, and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40372791
DOI: 10.1172/jci186915

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