Abstract
The calcium-sensing receptor (CaSR) has a central role in parathyroid gland function. Genetic alterations in CaSR are well known to cause inherited forms of abnormal calcium homeostasis. This review focuses on studies investigating the role of CaSR in common disorders of abnormal calcium handling and in cardiovascular calcification. Genetic population studies tested the association of common allelic CASR variants with serum and urine calcium levels, kidney stone disease, primary hyperparathyroidism and bone mineral density. The results of these association studies suggested either minor or no effects of CASR variants in these phenotypes. Decreased expression of CaSR was associated with the etiology of cardiovascular calcification in individuals with advanced chronic kidney disease. Ionized calcium plays a central role in the physiology of many organ systems and disease states, but the roles of CaSR other than as illustrated by Mendelian forms of CaSR dysfunction remain unclear. The contributions of CaSR to bone mineral homeostasis, vascular calcification and other forms of cardiovascular disease need further investigation.
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