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GEN News Highlights : Jun 29, 2009

Investigators Identify SNP Linked to Kidney Stones and Decreased Bone Mineral Density

Homozygous carriers had lower BMD at the hip and spine, as reported in Nature Genetics.


Researchers at deCODE genetics and academic collaborators identified a SNP in the claudin 14 gene (CLDN14) that they believe could be responsible for kidney stones and contribute to decreased bone mineral density (BMD).  The research is published in the online edition of Nature Genetics. The paper is called “Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.”


Claudin 14 is one of a family of kidney cell membrane proteins that regulate ion and small solute passage between cells. Studies by the deCODE researchers in partnership with scientists in Iceland, The Netherlands, and Denmark suggest the claudin 14 SNP contributes to increased calcium excretion in urine, an indicator of bone loss.

Additionally, homozygous carriers also had a 65% higher risk of developing kidney stones than those who didn’t have the gene variant. They also found that women who were homozygous for the SNP had decreased BMD at the hip and spine.