Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly).

doi:10.1038/ejhg.2011.221

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Article

Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly).

European journal of human genetics : EJHG - 1 Apr 2012

Reyes Marcela, Rothe Hansjörg M, Mattar Pamela, Shapiro Warren B, Cifuentes Mariana

Abstract excerpt

Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma. Carriers of the Arg allelle, show less parathyroid hormone secretion suppression in response to the drug. This effect was reproducible in transfected cultured human embryonic kidney cells, supporting a causal...

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PMID: 22166946
DOI: 10.1038/ejhg.2011.221
PMCID: PMC3306864

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