The association between BsmI polymorphism and bone mineral density in young patients with epilepsy who are taking phenytoin

Epilepsia. 2013 Feb;54(2):249-55. doi: 10.1111/epi.12049. Epub 2013 Jan 2.

Abstract

Purpose: This study sought to determine the association between BsmI polymorphism and bone mineral density, 25-hydroxyvitamin D, and parathyroid hormone levels in patients with epilepsy.

Methods: We recruited ambulatory young adults with epilepsy who were taking phenytoin. Data regarding demographics, basic laboratory studies, history of clinical epilepsy, parathyroid hormone, and vitamin D levels, as well as BsmI polymorphism of the vitamin D receptor (VDR) gene, were obtained. The bone mineral density (BMD) of the lumbar spine and left femur were measured using dual-energy x-ray absorptiometry.

Key findings: Ninety-four patients were included in the study. BsmI polymorphism had a statistically significant lower T-score of the lumbar spine and left femoral neck than patients with wild-type VDR gene (p < 0.01 and p < 0.01, respectively). In addition, patients with BsmI polymorphism had a statistically significant lower z-score of the lumbar spine and left femoral neck than patients with wild-type VDR gene (p < 0.01 and p < 0.01, respectively). The 25-hydroxyvitamin D level in patients with wild-type genes was higher than in epileptic patients with BsmI polymorphism (p < 0.01 and p < 0.01, respectively). Parathyroid hormone level in patients with wild-type VDR gene or patients having BsmI polymorphism was not correlated with BMD at either site.

Significance: In patients with epilepsy taking phenytoin, having BsmI polymorphism was associated with lower BMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 25-Hydroxyvitamin D 2 / blood
  • Absorptiometry, Photon
  • Adolescent
  • Adult
  • Anticonvulsants / adverse effects*
  • Anticonvulsants / therapeutic use
  • Bone Density / drug effects*
  • Bone Density / genetics*
  • Calcium / blood
  • Cross-Sectional Studies
  • DNA / genetics
  • Demography
  • Deoxyribonucleases, Type II Site-Specific / genetics*
  • Epilepsy / complications*
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Parathyroid Hormone / blood
  • Phenytoin / adverse effects*
  • Phenytoin / therapeutic use
  • Polymorphism, Genetic / genetics*
  • Real-Time Polymerase Chain Reaction
  • Receptors, Calcitriol / genetics
  • Spectrophotometry, Ultraviolet
  • Young Adult

Substances

  • Anticonvulsants
  • Parathyroid Hormone
  • Receptors, Calcitriol
  • 25-Hydroxyvitamin D 2
  • Phenytoin
  • DNA
  • endodeoxyribonuclease BsmI
  • Deoxyribonucleases, Type II Site-Specific
  • Calcium