R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism

S. Corbetta, C. Eller-Vainicher, M. Filopanti, P. Saeli, G. Vezzoli, T. Arcidiacono, P. Loli, M. L. Syren, L. Soldati, P. Beck-Peccoz, Anna Spada

Research output: Contribution to journalArticle

Abstract

Context: Primary hyperparathyroidism (PHPT) shows a great variability in clinical course and severity. Data concerning the association between polymorphic variants of the gene encoding the calcium-sensing receptor (CaSR) and clinical characteristics of PHPT are not conclusive. Objective: To evaluate the frequency of three polymorphisms; A986S, R990G, and Q1011E of CaSR in patients with PHPT and to correlate the genotypes with clinical and biochemical parameters. Patients and methods: The study included 94 consecutive unrelated patients referred to our Departments for PHPT diagnosis and management between 2000 and 2005 and 137 age and sex-matched healthy subjects. Patients and controls were genotyped according to standard procedures. Due to the rarity of 990G allele, homozygous and heterozygous subjects were grouped in R/G + G/G set. All PHPT patients were studied for calcium metabolism parameters and renal and bone complications. Results: The proportion of CaSR variants was similar in PHPT patients and controls. In PHPT patients, only R990G polymorphism was associated with disease parameters; in comparison with R/R, R/G+G/G patients showed lower mean serum parathyroid hormone (PTH) and phosphate levels (139.9±62.2 vs 199.9±136.3 pg/ml, P

Original languageEnglish
Pages (from-to)687-692
Number of pages6
JournalEuropean Journal of Endocrinology
Volume155
Issue number5
DOIs
Publication statusPublished - Nov 2006

ASJC Scopus subject areas

  • Endocrinology

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