Research highlight

Genetic variants associated with kidney stones

Nature Genetics

June 29, 2009

Common genetic variants are associated with an increased risk of kidney stone disease, according to a study published online in this week's Nature Genetics.

Kidney stone disease is a common disorder in the West and although it has a clear heritable component, common genetic risk factors had not yet been discovered.

Gudmar Thorleifsson and colleagues examined the genomes of 46,283 individuals and found that common variants within the CLDN14 gene are significantly associated with kidney stone disease. Individuals with certain CLDN14 variants can have a slightly increased risk of developing kidney stone disease compared to individuals who do not have the risk-associated variants.

The CLDN14 gene encodes a protein that likely regulates important cellular functions in the kidney, although further research is needed to determine how this protein might affect kidney stone formation.

doi: 10.1038/ng.404

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