Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc49 | Calcium and bone OC49 Novartis Oncology Young Investigator Award | ECE2006

The A990G polymorphism of calcium sensing receptor gene (CASR) is associated with nephrolithiasis in patients with primary hyperparathyroidism (PHPT)

Eller-Vainicher C , Filopanti M , Vezzoli G , Soldati L , Saeli P , Beck-PEccoz P , Spada A , Corbetta S

Primary HPT shows a great variability in its clinical course and severity, which might be related to polymorphic variants of the CASR gene. The aim of the study was to evaluate the frequency of two known CASR single nucleotide polymorphisms (SNPs), i.e. G/T at codon 986 and G/A at codon 990, in a homogenous North-Italian cohort of PHPT patients compared with a sex and age matched healthy population and the possible correlation of these CASR gene variants with the clinical and ...