Introduction: The role of vitamin D receptor (VDR) gene polymorphism in the pathogenesis of hyperparathyrodism is not clear yet. The aim of this study was to examine the role of BsmI VDR gene polymorphism in patients with primary hyperparathyrodism (PHP) secondary to adenomas.
Material and methods: Fifty two postmenopausal women with PHP, mean age 64.5 years, were compared with a normal age-matched female population (n=81).
Results: Distribution of BsmI polymorphism in PHP group was: Bb 54% (28/52); BB 21% (11/52); bb 25% (13/52). In the control group, the distribution in PHP group as follows: Bb 49% (40/81); BB 16% (13/81); bb 35% (28/81). No statistical differences were found between the two groups. In the PHP group, no statistical associations were found between different allelic distribution and age, creatinine, hematocrit, phosphorus, alkaline phosphatase (ALP), total calcium, serum parathyroid hormone (PTH), or gland weight. This data suggest that at least in this group, BsmI VDR gene polymorphism appears to be without relevance in clinical presentation and possibly tumorigenesis in PHP secondary to adenomas.

Keywords: VDR polymorphism, hyperparathyrodism, parathyroid adenoma