Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by the overactivity of the parathyroid glands. While a few genes have been linked to a predisposition for PHPT, the genetic foundation of the disease remains unclear, despite it being the third most prevalent endocrine disorder. This pilot study aimed to investigate, for the first time, the potential association between specific variants in Annexin A2 (-rs7170178, rs17191344, rs11633032), Mediator Complex Subunit 12 (-rs1057519912), Calmodulin 1 (-rs12885713), and Mitogen-Activated Protein Kinase 1 (-rs1057519911) genes with PHPT.
View Article and Find Full Text PDF: Parathyroid adenoma is a distinct cause of primary hyperparathyroidism, with the vast majority being sporadic ones. Proteomic analysis of parathyroid adenomas has proposed a large number of related proteins. The aim of this study is to evaluate the immunohistochemical staining of ANXA2, MED12, MAPK1 and VDR in parathyroid adenoma tissue.
View Article and Find Full Text PDFBackground: Association studies of vitamin D receptor (VDR) polymorphisms with COVID-19 severity have produced inconsistent results in different populations. Herein we examined gene polymorphisms in a Caucasian Greek cohort of COVID-19 patients.
Methods: This was a case-control study in a tertiary university hospital in Greece including 137 COVID-19 patients with varying disease severities and 72 healthy individuals.
Front Endocrinol (Lausanne)
May 2023
Introduction: Primary HPT (PHPT) is a common disorder, affecting approximately 1% of the general population. Parathyroid adenomas emerge as non-familial sporadic in 90% of cases. The aim of this review is to give a detailed update of molecular genetics of sporadic parathyroid adenoma reported in international literature.
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