Kang Seo Young, Park Suyeon, Oh Eungseok, Park Jinse, Youn Jinyoung, Kim Ji Sun, Kim Jeong-Uk, Jang Wooyoung
Department of Family Medicine, Asan Medical Center, University of Ulsan College of Medicine, 88 Olymphic-ro 43 Gil, Songpa-gu, Seoul, Republic of Korea.
Department of Biostatistics, Soonchunhyang University Hospital, Daesagwan-ro 59, Yongsan-gu, Seoul, Republic of Korea.
Neurosci Lett. 2016 Aug 15;628:230-5. doi: 10.1016/j.neulet.2016.06.041. Epub 2016 Jun 21.
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.
最近，维生素D受体（VDR）基因中的遗传变异对帕金森病（PD）的影响受到了关注。然而，VDR基因多态性与PD之间的确切关系仍不清楚。在韩国，一项研究报道了VDR基因多态性与PD之间的关联。然而，该研究样本量较小，仅评估了Bsml位点。因此，有必要在韩国人群中进一步研究VDR基因多态性与PD之间的关系。本研究共纳入300名受试者。146例PD患者根据英国帕金森病协会脑库（UKPDBB）标准诊断，多巴胺转运体成像异常，同时纳入154名健康对照受试者。我们使用TaqMan基因分型检测法来识别VDR基因的四个单核苷酸多态性（SNP），包括BsmI、FokI、ApaI和TaqI（rs731236、rs2228570、rs7976091和rs731236）。在韩国人群中，未发现这四个位点的基因多态性与PD风险之间存在显著关联。然而，在调整血清25-羟基维生素D3水平后分析VDR基因的遗传变异时，TaqI和BsmI的次要等位基因增加了PD的风险。我们的数据表明，在韩国人群中，PD与包括BsmI、FokI、ApaI和TaqI在内的VDR基因多态性之间无相关性；然而，由于可能存在基因-环境相互作用，结果应谨慎解读。需要进一步研究VDR及其与PD的关系，以确定维生素D在PD发病机制中的作用。
