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Association of Vitamin D Receptor Gene Polymorphism and Parkinson’s Disease in Koreans

Joong Seok Kim, Yeong In Kim, Christopher Song^*, Injin Yoon, Jeong Wook Park, Young Bin Choi, Hee Tae Kim^†, Kwang Soo Lee

Department of Neurology, The Catholic University of Korea, Seoul, Korea; Division of Biology and Medicine, Brown University^*, RI, U.S.A.; Department of Neurology, College of Medicine, Hanyang University^†, Seoul, Korea. ks1007@cmc.cuk.ac.kr

1 ,25-dihydroxyvitamin D3 (1,25(OH)2 D3 ), which is the biologically active form of vitamin D, has anti-inflammatory effects and can prevent experimental Parkinson’s disease (PD). 1,25(OH)2 D3 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.