title: BsmI polymorphism of the vitamin D receptor gene in hyperparathyroid or hypoparathyroid dialysis patients.
abstract: Since bone mineral density may be influenced by the polymorphisms of the vitamin D receptor (VDR) gene, we studied whether VDR genotypes might drive the progression toward hyperparathyroidism or hypoparathyroidism in patients with end-stage renal disease. On the basis of their parathyroid hormone (PTH) levels, we divided 99 patients undergoing dialysis into 2 groups: 56 patients with hypoparathyroidism (PTH < 104 pg/mL [< 11 pmol/L]) and 43 with hyperparathyroidism (PTH > 261 pg/mL [> 27.5 pmol/L]). The BB polymorphism was more frequent in patients with hypoparathyroidism (34%) than in patients with hyperparathyroidism (16%), but the difference did not reach statistical significance. Patients with the B allele and BB genotype had a significantly lower dialytic age and serum PTH and alkaline phosphatase levels than patients with the b allele and bb genotype. These results suggest that in end-stage renal disease, the BB genotype may mark a higher risk of developing hypoparathyroidism and diminished bone turnover.
authors.affiliation: Department of Internal Medicine, University of Milan, Italy.
authors.forename: J
authors.initials: J
authors.lastname: Tagliabue
authors.forename: M
authors.initials: M
authors.lastname: Farina
authors.forename: E
authors.initials: E
authors.lastname: Imbasciati
authors.forename: C
authors.initials: C
authors.lastname: Vergani
authors.forename: G
authors.initials: G
authors.lastname: Annoni
mesh_terms: D015519:Bone Density / Q000502:physiology; D005260:Female; D005838:Genotype; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007011:Hypoparathyroidism / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010531:Peritoneal Dialysis, Continuous Ambulatory; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D006435:Renal Dialysis / Q000379:methods*
chemical_list: D018167:Receptors, Calcitriol