| 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 |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Related Documents
:
|
19879744 - Comorbidity and gender-related differences in patients hospitalized for copd. the ecco ... 7305074 - Abnormal immunologic measurements in asthmatic children and adults. 11601744 - Sputum eosinophilia in churg-strauss syndrome. 21182164 - Grey matter deficit in long-term recovered anorexia nervosa patients. 19879744 - Comorbidity and gender-related differences in patients hospitalized for copd. the ecco ... 8804014 - Differing dialysis treatment strategies and outcome. |
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: - |
Affiliation:
|
G Vezzoli, Nephrology and Dialysis Unit, San Raffaele Scientific Institute, Milan, 20132, Italy. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Assessing adrenal status in patients before and immediately after coronary artery bypass graft surge...
Next Document: Sheehan's syndrome in Modern Times. A nationwide retrospective study in Iceland.