Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.

doi:10.1007/s40620-014-0106-8

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Article

Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.

Journal of nephrology - 1 Feb 2015

Vezzoli Giuseppe, Scillitani Alfredo, Corbetta Sabrina, Terranegra Annalisa, Dogliotti Elena, Guarnieri Vito, Arcidiacono Teresa, Macrina Lorenza, Mingione Alessandra, Brasacchio Caterina, Eller-Vainicher Cristina, Cusi Daniele, Spada Anna, Cole David E C, Hendy Geoffrey N, Spotti Donatella, Soldati Laura

Abstract excerpt

AIMS: Two single-nucleotide polymorphisms (SNPs) at the calcium-sensing receptor (CASR) gene were previously associated with kidney stones in patients with primary hyperparathyroidism (PHPT): rs1501899, likely associated with a decrease in CASR expression, and Arg990Gly, causing a gain of CASR function. To evaluate the interaction of these two SNPs in the stone risk, we tested the association of stones with the...

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PMID: 24832896
DOI: 10.1007/s40620-014-0106-8

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CASR

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