Association of vitamin D receptor gene polymorphism and Parkinson's disease in Koreans

J Korean Med Sci. 2005 Jun;20(3):495-8. doi: 10.3346/jkms.2005.20.3.495.

Abstract

1alpha,25-dihydroxyvitamin D3 (1,25(OH)2D3), which is the biologically active form of vitamin D, has anti-inflammatory effects and can prevent experimental Parkinson's disease (PD). 1,25(OH)2D3 exerts most of its actions only after it binds to its specific nuclear receptors. Eighty-five Korean patients with PD and 231 unrelated healthy individuals were evaluated to determine if vitamin D receptor gene (VDRG) BsmI polymorphisms were markers for the susceptibility to PD in Korean patients. Each polymorphism was detected using polymerase chain reaction (PCR)-based restriction analysis. In addition, the relationship between the BsmI polymorphisms and the clinical manifestations of PD was evaluated. Overexpression of the b allele (91.2 vs. 85.7%; p=0.069) and homozygote bb (84.7 vs. 72.7%; p=0.043) was found in the PD patients compared with the controls. These results show for the first time an association between PD and a VDRG polymorphism, which might be involved in the pathogenesis of PD, or in the linkage disequilibrium of the VDRG to another pathogenic gene locus.

MeSH terms

  • Aged
  • Alleles
  • DNA / genetics
  • DNA / metabolism
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Korea
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*

Substances

  • Receptors, Calcitriol
  • DNA
  • endodeoxyribonuclease BsmI
  • Deoxyribonucleases, Type II Site-Specific