Original articleAnalysis of the influence of the T393C polymorphism of the GNAS gene in the clinical expression of primary hyperparathyroidismAnálisis de la influencia del polimorfismo T393C del gen GNAS en la expresión clínica del hiperparatiroidismo primario

Background The receptor of parathyroid hormone and parathyroid hormone-related-protein (PTH/PTHrp) is located in the cell membrane of target tissues – kidney and osteoblasts. It is a G protein-coupled-receptor whose Gsα subunit is encoded by the GNAS gene. Our aim was to study whether the single nucleotide polymorphism (SNP) T393C of the GNAS gene is associated with renal stones, bone mineral density (BMD), or bone remodelling markers in primary hyperparathyroidism (PHPT).