Genetic susceptibility to kidney stone disease: unveiling pathogenesis and potential therapeutic targets.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 40759569.
- Also identified by DOI 10.1172/JCI195624 and PMC identifier 12321377.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Kidney stone disease (KSD) arises from a complex interplay of genetic predisposition, diet, metabolic disorders, and other environmental factors. In this issue of the JCI, Lovegrove et al. report a large GWAS that identifies 71 loci associated with an increased risk of KSD. Through an integrative approach combining Mendelian randomization and functional validation, they emphasize the roles of DGKD, SLC34A1, and CYP24A1 in maintaining homeostasis of calcium and phosphate. These findings offer insights into the pathogenesis of KSD and suggest potential targets for intervention. Further studies are needed to validate these findings across diverse populations and clinical settings.
Medical subject headings
- Kidney Calculi
- Genetic Predisposition to Disease