Department of Neurology, Affiliated Hospital of Medical College, Qingdao University, Qingdao, China.
Neurosci Lett. 2012 Sep 6;525(1):29-33. doi: 10.1016/j.neulet.2012.07.033. Epub 2012 Jul 26.
Vitamin D plays an important role in neurodegenerative disorders as a crucial neuro-immunomodulator, and accumulating data have provided evidence for that vitamin D receptor (VDR) gene is a candidate gene for susceptibility to Parkinson's disease (PD). In this study, we performed a case-control study to demonstrate whether the risk for the development of onset of sporadic PD might be influenced by VDR gene polymorphisms in a Chinese cohort. Two hundred and sixty PD patients and 282 matched-healthy controls were genotyped for two representative single nucleotide polymorphisms (SNPs) in VDR gene (FokI C/T and BsmI G/A) by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis in. Results from our study revealed that FokI C allele carriers were likely to associate with an increased risk of PD (P=0.004) as well as early-onset PD (EOPD) (P=0.010). Moreover, the frequency of FokI C allele was significantly increased in PD group and late-onset PD (LOPD) group relative to the control groups respectively (P=0.023 and P=0.033, respectively). For BsmI polymorphisms, no significant difference in genotype or allele distribution was found between PD patients and the controls, as well as gender- and age-related differences between PD patients and the controls subgroup. This study demonstrated a possible association between the VDR FokI T/C polymorphism and PD, indicating that VDR polymorphisms may well change genetic susceptibility to sporadic PD in a Han Chinese population.
维生素 D 作为一种重要的神经免疫调节剂,在神经退行性疾病中发挥着重要作用,越来越多的证据表明维生素 D 受体 (VDR) 基因是帕金森病 (PD) 易感性的候选基因。在这项研究中,我们进行了一项病例对照研究,以证明 VDR 基因多态性是否会影响中国人群散发性 PD 的发病风险。通过聚合酶链反应和限制性片段长度多态性 (PCR-RFLP) 分析,对 260 例 PD 患者和 282 例匹配的健康对照者的 VDR 基因 (FokI C/T 和 BsmI G/A) 中的两个代表性单核苷酸多态性 (SNP) 进行了基因分型。我们的研究结果表明,FokI C 等位基因携带者可能与 PD(P=0.004)以及早发性 PD(EOPD)(P=0.010)的风险增加相关。此外,FokI C 等位基因的频率在 PD 组和晚发性 PD(LOPD)组中明显高于对照组(分别为 P=0.023 和 P=0.033)。对于 BsmI 多态性,PD 患者与对照组之间的基因型或等位基因分布没有显著差异,PD 患者与对照组亚组之间的性别和年龄也没有差异。这项研究表明 VDR FokI T/C 多态性与 PD 之间可能存在关联,表明 VDR 多态性可能会改变汉族人群散发性 PD 的遗传易感性。