Document Detail

Polymorphisms at the regulatory region of the calcium-sensing receptor gene influence stone risk in primary hyperparathyroidism.
MedLine Citation:
PMID:  21183554     Owner:  NLM     Status:  Publisher    
Background: Calcium-sensing receptor (CaSR) gene polymorphisms (SNPs) at the regulatory region were associated with idiopathic calcium nephrolithiasis. To confirm their association with nephrolithiasis, we tested patients with primary hyperparathyroidism (PHPT). Design: Genotype-phenotype association study. Methods: 332 PHPT patients and 453 healthy controls were genotyped for the rs7652589 (G>A) and rs1501899 (G>A) SNPs sited in the non-coding regulatory region of the CaSR gene. Allele, haplotype and diplotype distribution was compared in PHPT patients and controls, and in stone forming and stone free PHPT patients. Results: The allele frequency at rs7652589 and rs1501899 SNPs was similar in PHPT patients and controls. The A minor alleles at these two SNPs were more frequent in stone forming (n=157) than stone-free (n=175) PHPT patients (rs7652589: 36.9 vs 27.1%, p=0.007; rs1501899: 37.1 vs 26.4%, p=0.003). Accordingly, homozygous or heterozygous PHPT patients for the AA haplotype (n=174, AA/AA or AA/GG diplotype) had an increased stone risk (OR 1.83, 95%CI 1.2-2.9, p=0.008). Furthermore, these PHPT patients had higher serum concentrations of ionized calcium and PTH (1.50±0.015 mmol/l and 183±12.2 pg/ml) than patients with the GG/GG diplotype (n=145, 1.47±0.011 mmol/l [p=0.04] and 150±11.4 pg/ml [p=0.049]). Using a logistic regression model, the increase in stone risk in PHPT patients was predicted by AA/AA or AA/GG diplotype, the highest tertile of serum ionized calcium values and the lowest tertile of age. Conclusions: Polymorphisms located in the regulatory region of the CaSR gene may increase susceptibility of the PHPT patients to kidney stone production.
Giuseppe Vezzoli; Alfredo Scillitani; Sabrina Corbetta; Annalisa Terranegra; Elena Dogliotti; Vito Guarnieri; Teresa Arcidiacono; Vera Paloschi; Francesco Rainone; Cristina Eller-Vainicher; Loris Borghi; Antonio Nouvenne; Angela Guerra; Tiziana Meschi; Franca Allegri; Daniele Cusi; Anna Spada; David E C Cole; Geoffrey Hendy; Donatella Spotti; Laura Soldati
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-23
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  -     ISSN:  1479-683X     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
G Vezzoli, Nephrology and Dialysis Unit, San Raffaele Scientific Institute, Milan, 20132, Italy.
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