Vitamin D receptor polymorphisms correlate to parathyroid cell function in primary hyperparathyroidism

J Clin Endocrinol Metab. 1997 Jun;82(6):1772-5. doi: 10.1210/jcem.82.6.4012.

Abstract

Calcitriol acts via its receptor (VDR) and inhibits PTH secretion and parathyroid cell proliferation. Increased prevalence of the polymorphic VDR alleles b, a, and T has been demonstrated in sporadic primary hyperparathyroidism. Sixty-two patients with primary hyperparathyroidism due to parathyroid adenoma (mean age, 69.5 +/- 1.4 yr) were genotyped for these VDR polymorphisms. Dispersed cells of the adenomas were exposed to increasing concentrations of extracellular Ca2+ and analyzed for PTH release and cytoplasmic Ca2+ concentrations. Ca2+-mediated PTH inhibition exhibited higher ED50 and less suppression in the cells of patients who were homozygous for the b, a, and T alleles (P < 0.05-0.10). When analyzing haplotypes, the patients with baT demonstrated a ED50 of 1.81 +/- 0.15 vs. 1.29 +/- 0.10 for BAt (P < 0.05). As VDR alleles were unrelated to parathyroid intracellular Ca2+, influences of polymorphic VDR alleles on PTH secretion seem to involve mechanisms other than the Ca2+-sensing protein of the parathyroid cell surface.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma / complications
  • Adenoma / pathology
  • Aged
  • Alleles
  • Calcium / pharmacology
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Hyperparathyroidism / etiology
  • Hyperparathyroidism / genetics*
  • Hyperparathyroidism / physiopathology*
  • Male
  • Parathyroid Glands / pathology
  • Parathyroid Glands / physiopathology*
  • Parathyroid Hormone / antagonists & inhibitors
  • Parathyroid Neoplasms / complications
  • Parathyroid Neoplasms / pathology
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*

Substances

  • Parathyroid Hormone
  • Receptors, Calcitriol
  • Calcium