title: Lack of relationship between BsmI vitamin D receptor polymorphism and primary hyperparathyroidism in a Spanish female population.
abstract: The role of vitamin D receptor (VDR) gene polymorphisms in the pathogenesis of hyperparathyroidism is uncertain. Controversial results have been reported. The aim of this study was to explore the relevance of BsmI VDR gene polymorphism in patients with primary hyperparathyroidism (PHPT) due to adenomas. For this purpose, 36 postmenopausal patients with PHPT, mean age 64 years, were compared with a normal age-matched female population (n = 81). BsmI polymorphism distribution in PHPT group was as follows: Bb 50% (18/36); BB 22% (8/36); bb 28% (10/36). In the control group, the distribution was Bb 49% (40/81); BB 16% (13/81); bb 35% (28/81). No statistical differences were found between the two groups. In the PHPT 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. By contrast, levels of serum calcium and iPTH values positively correlated with the PT weight (r = 0.421 and 0.599, respectively, P = 0.0001). Our data suggest that at least in this group, BsmI VDR gene polymorphism appears to be of minor relevance in clinical presentation and possibly, tumorigenesis in PHPT due to adenomas.
authors.affiliation: Department of Pathology, Hospital General Universitario Gregorio Marañón, Dr Esquerdo 46, 28007, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Menárguez
authors.forename: M
authors.initials: M
authors.lastname: Goicoechea
authors.forename: E
authors.initials: E
authors.lastname: Crist bal
authors.forename: B
authors.initials: B
authors.lastname: Arribas
authors.forename: M E
authors.initials: ME
authors.lastname: Martínez
authors.forename: J A
authors.initials: JA
authors.lastname: Alcázar
authors.forename: R
authors.initials: R
authors.lastname: Carri n
authors.forename: J R
authors.initials: JR
authors.lastname: Polo
mesh_terms: D000236:Adenoma / Q000235:genetics; D015331:Cohort Studies; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000097:blood / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D013030:Spain
chemical_list: D018167:Receptors, Calcitriol; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific