Association of Vitamin D Receptor Gene Polymorphism and Parkinson's Disease in Koreans.
10.3346/jkms.2005.20.3.495
- Author:
Joong Seok KIM
1
;
Yeong In KIM
;
Christopher SONG
;
Injin YOON
;
Jeong Wook PARK
;
Young Bin CHOI
;
Hee Tae KIM
;
Kwang Soo LEE
Author Information
1. Department of Neurology, The Catholic University of Korea, Seoul, Korea. ks1007@cmc.cuk.ac.kr
- Publication Type:Original Article
- Keywords:
Parkinson Disease;
Vitamin D;
Receptors, Calcitriol;
Polymorphism, Genetic
- MeSH:
Aged;
Alleles;
DNA/genetics/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
- From:Journal of Korean Medical Science
2005;20(3):495-498
- CountryRepublic of Korea
- Language:English
-
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.
