Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.

doi:10.1530/EJE-10-0915

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Article

Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.

European journal of endocrinology - 1 Mar 2011

Vezzoli Giuseppe, Scillitani Alfredo, Corbetta Sabrina, Terranegra Annalisa, Dogliotti Elena, Guarnieri Vito, Arcidiacono Teresa, Paloschi Vera, Rainone Francesco, Eller-Vainicher Cristina, Borghi Loris, Nouvenne Antonio, Guerra Angela, Meschi Tiziana, Allegri Franca, Cusi Daniele, Spada Anna, Cole David E C, Hendy Geoffrey N, Spotti Donatella, Soldati Laura

Abstract excerpt

BACKGROUND AND OBJECTIVE: Single nucleotide polymorphisms (SNPs) of the calcium-sensing receptor (CASR) gene at the regulatory region were associated with idiopathic calcium nephrolithiasis. To confirm their association with nephrolithiasis, we tested patients with primary hyperparathyroidism (PHPT). DESIGN: A genotype-phenotype association study. METHODS: In all, 332 PHPT patients and 453 healthy controls were...

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PMID: 21183554
DOI: 10.1530/EJE-10-0915

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CASR

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