title: Vitamin D receptor polymorphisms and Parkinson's disease in a Korean population: Revisited.
abstract: Recently, the effect of genetic variants in the Vitamin D receptor (VDR) gene on Parkinson's disease (PD) has gained interest. However, the precise relationship between VDR polymorphisms and PD remains unclear. In Korea, one study reported an association between VDR gene polymorphisms and PD. However, this study was conducted with a small sample size, and only the Bsml locus was evaluated. Therefore, further investigations about the relationship between VDR polymorphisms and PD are necessary in a Korean population. A total of 300 subjects were included in this study. One hundred and forty-six PD patients were diagnosed according to the United Kingdom Parkinson's Disease Society Brain Bank (UKPDBB) criteria with abnormal dopamine transporter imaging, and 154 healthy control subjects were also enrolled. We used a TaqMan genotyping assay to identify four SNPs of the VDR gene, including BsmI, FokI, ApaI, and TaqI (rs731236, rs2228570, rs7976091, and rs731236). A significant association was not noted between the risk of PD and genetic polymorphisms in the four loci in a Korean population. However, when the genetic variants of the VDR gene were analyzed after adjusting for the serum 25-OH vitamin D3 level, the TaqI and BsmI minor allele increased the risk of PD. Our data suggest no correlation between PD and the VDR polymorphisms, including BsmI, FokI, ApaI, and TaqI, in a Korean population; however, the results should be interpreted carefully because gene-environment interactions may exist. Further investigations of the VDR and its relationship with PD are required to identify the role of vitamin D in the pathogenesis of PD.
authors.affiliation: Department of Family Medicine, Asan Medical Center, University of Ulsan College of Medicine, 88 Olymphic-ro 43 Gil, Songpa-gu, Seoul, Republic of Korea.
authors.forename: Seo Young
authors.initials: SY
authors.lastname: Kang
authors.affiliation: Department of Biostatistics, Soonchunhyang University Hospital, Daesagwan-ro 59, Yongsan-gu, Seoul, Republic of Korea.
authors.forename: Suyeon
authors.initials: S
authors.lastname: Park
authors.affiliation: Department of Neurology, Chungnam National University College of Medicine, Chungnam National University Hospital, Munhwa-ro 282, Jung-gu, Daejeon, Republic of Korea.
authors.forename: Eungseok
authors.initials: E
authors.lastname: Oh
authors.affiliation: Department of Neurology, Inje University, Haeundae Paik Hospital, Jwa-dong 1435, Haeundae-gu, Busan, Republic of Korea.
authors.forename: Jinse
authors.initials: J
authors.lastname: Park
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Ilwon-ro 81, Gangnam-gu, Seoul, Republic of Korea.
authors.forename: Jinyoung
authors.initials: J
authors.lastname: Youn
authors.affiliation: Department of Neurology, Soonchunhyang University Hospital, Daesagwan-ro 59, Yongsan-gu, Seoul, Republic of Korea.
authors.forename: Ji Sun
authors.initials: JS
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Gangneung Asan Hospital, University of Ulsan College of Medicine, Bangdong-ri, Sacheon-myeon, Gangneung-si, Gangwon-do, Republic of Korea.
authors.forename: Jeong-Uk
authors.initials: JU
authors.lastname: Kim
authors.affiliation: Department of Neurology, Gangneung Asan Hospital, University of Ulsan College of Medicine, Bangdong-ri, Sacheon-myeon, Gangneung-si, Gangwon-do, Republic of Korea. Electronic address: neveu@gnah.co.kr.
authors.forename: Wooyoung
authors.initials: W
authors.lastname: Jang
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D002112:Calcifediol / Q000097:blood; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D002112:Calcifediol
keywords: Parkinson's disease; Single nucleotide polymorphism; South Korea; Vitamin D receptor