Background: The function of the calcium-sensing receptor (CaSR) is to maintain serum calcium concentration within a narrow physiological range. Two types of mutations have been described: activating that causes hypocalcemia and inactivating, which leads to hypercalcemia. The objective was to assess the effect of CaSR gene A986S polymorphism on the lumbar spine bone mass, calcium metabolism parameters and markers of bone remodeling in hypertensive women.
Methods: The study included 48 patients (mean age 59 +/- 10 years) with mild-to-moderate hypertension, according to JNC VI and who did not present any associated diseases. We determined the following in all patients: Ca, P, Mg, PTHi, 25-vitamin D, 1,25-vitamin D, osteocalcin, deoxypyridinoline in urine, 24-h urine calcium. A bone densitometry of the lumbar spine was also performed. CaSR gene A986S polymorphism was also studied in all patients by PCR.
Results: Genotype frequency was 69% for AA, 27% for AS and 4% for SS, with a prevalence of 82% for allele A and 18% for allele S. Patients with a lack of allele S had lower levels of p (3.5 +/- 0.5 vs. 4 +/- 0.4, p = .034). No differences in calcium plasma levels, urinary calcium excretion and bone mass were observed.
Conclusions: We found no clinical significance in the parameters studied of the CaSR gene A986S polymorphism in hypertensive women.
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Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort.
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Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary. Electronic address:
The calcium-sensing receptor (CASR) is expressed in the pancreas where it might regulate calcium concentrations in pancreatic secretions. Two independent studies reported conflicting results claiming that commonly occurring missense variants of the CASR gene are risk factors for chronic pancreatitis (CP). Here, we attempted to replicate the association between CASR variants and CP.
View Article and Find Full Text PDFThe three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis.
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Pediatric Nutritional Medicine & Else Kröner-Fresenius-Centre for Nutritional Medicine (EKFZ), Technical University Munich (TUM), Freising, Germany. Electronic address:
Background: The calcium sensing receptor (CASR) is a G protein-coupled receptor that is responsible for assessing extracellular Ca levels and thus plays a crucial role in calcium homeostasis. Hypercalcemia is a metabolic risk factor for pancreatitis and rare CASR variants have been described in patients with chronic pancreatitis. At the carboxy-terminal tail of CASR, there is a cluster of three common polymorphisms, p.
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Laboratory of Genomics & Bioinformatics, Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.
Calcium-sensing receptors (CASR) are a dimeric family of C-class G-protein-coupled receptors that play a crucial role in bone and mineral metabolism by regulating parathyroid hormone (PTH) secretion, skeletal development, and urinary Ca excretion. Genetic factors mainly impact bone mineral density (BMD). However, many variable factors may affect bone health, including physical activity.
View Article and Find Full Text PDFThe Calcium-Sensing Receptor Gene Polymorphism rs1801725 and Calcium-Related Phenotypes in Hemodialysis Patients.
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Background/aims: The calcium-sensing receptor gene (CASR) rs1801725 variant is responsible for a non-conservative amino-acid change (A986S) in the calcium-sensing receptor cytoplasmic tail. We hypothesized that rs1801725 polymorphism might be helpful in understanding Ca-related abnormalities in HD patients.
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Vitamin D receptor and calcium-sensing receptor polymorphisms and colorectal cancer survival in the Newfoundland population.
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Division of Epidemiology, Public Health Ontario, Toronto, ON M5G 1V2, Canada.
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