title: Association of vitamin D receptor gene polymorphism and Parkinson's disease in Koreans.
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.
authors.affiliation: Department of Neurology, The Catholic University of Korea, Seoul.
authors.forename: Joong-Seok
authors.initials: JS
authors.lastname: Kim
authors.forename: Yeong-In
authors.initials: YI
authors.lastname: Kim
authors.forename: Christopher
authors.initials: C
authors.lastname: Song
authors.forename: Injin
authors.initials: I
authors.lastname: Yoon
authors.forename: Jeong-Wook
authors.initials: JW
authors.lastname: Park
authors.forename: Young-Bin
authors.initials: YB
authors.lastname: Choi
authors.forename: Hee-Tae
authors.initials: HT
authors.lastname: Kim
authors.forename: Kwang-Soo
authors.initials: KS
authors.lastname: Lee
mesh_terms: D000368:Aged; D000483:Alleles; D004247:DNA / Q000235:genetics / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; D004247:DNA; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific