Department of Neurology, University of Szeged, Semmelweis u. 6., H-6725 Szeged, Hungary.
Neurosci Lett. 2013 Sep 13;551:70-4. doi: 10.1016/j.neulet.2013.07.014. Epub 2013 Jul 21.
Vitamin D receptor (VDR) gene encodes a transcription factor that influences calcium homeostasis and immunoregulation, and may play a role in neurological disorders including Parkinson's disease (PD). The investigations of the association between VDR and PD in different populations revealed various results. In a present study 100 PD patients and 109 healthy controls from the Hungarian population were genotyped for four polymorphic sites (BsmI, ApaI, FokI and TaqI) in the VDR gene. The polymorphisms were determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Our results demonstrate an association between the FokI C allele and PD; the frequency of the C allele was significantly higher in PD patients than in controls, suggesting that this polymorphism may have a role in the development of PD in these patients.
维生素 D 受体 (VDR) 基因编码一种转录因子,影响钙稳态和免疫调节,可能在包括帕金森病 (PD) 在内的神经紊乱中发挥作用。不同人群中 VDR 与 PD 之间关联的研究结果各不相同。在本研究中,对来自匈牙利人群的 100 名 PD 患者和 109 名健康对照者进行了维生素 D 受体基因中的四个多态性位点 (BsmI、ApaI、FokI 和 TaqI) 的基因分型。通过聚合酶链反应和限制性片段长度多态性 (PCR-RFLP) 来确定多态性。我们的研究结果表明,FokI C 等位基因与 PD 之间存在关联;C 等位基因在 PD 患者中的频率明显高于对照组,提示该多态性可能在这些患者 PD 的发生中起作用。