Article
Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis.
The Journal of clinical endocrinology and metabolism - 1 Sept 2013
Vezzoli Giuseppe, Terranegra Annalisa, Aloia Andrea, Arcidiacono Teresa, Milanesi Luciano, Mosca Ettore, Mingione Alessandra, Spotti Donatella, Cusi Daniele, Hou Jianghui, Hendy Geoffrey N, Soldati Laura, Paloschi Vera, Dogliotti Elena, Brasacchio Caterina, Dell'Antonio Giacomo, Montorsi Francesco, Bertini Roberto, Bellinzoni Piera, Guazzoni Giorgio, Borghi Loris, Guerra Angela, Allegri Franca, Ticinesi Andrea, Meschi Tiziana, Nouvenne Antonio, Lupo Antonio, Fabris Antonia, Gambaro Giovanni, Strazzullo Pasquale, Rendina Domenico, De Filippo Giampaolo, Brandi Maria Luisa, Croppi Emanuele, Cianferotti Luisella, Trinchieri Alberto, Caudarella Renata, Cupisti Adamasco, Anglani Franca, Del Prete Dorella
Abstract excerpt
BACKGROUND: CaSR gene is a candidate for calcium nephrolithiasis. Single-nucleotide polymorphisms (SNPs) encompassing its regulatory region were associated with calcium nephrolithiasis. AIMS: We tested SNPs in the CaSR gene regulatory region associated with calcium nephrolithiasis and their effects in kidney. SUBJECTS AND METHODS: One hundred sixty-seven idiopathic calcium stone formers and 214 healthy controls...
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