Universidad de Extremadura, University Institute of Molecular Pathology Biomarker, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.
Section of Neurology, Ronda del Sur 10, E28500 Argamda del Rey (Madrid), C/ Marroquina 14, 3o B, 28030, Madrid, Spain.
Mol Neurobiol. 2022 Jun;59(6):3458-3466. doi: 10.1007/s12035-022-02804-8. Epub 2022 Mar 24.
Several studies have shown an association between some variants in the vitamin D receptor (VDR) and the GC vitamin D binding protein (GC) genes with the risk for Parkinson's disease or other neurological disorders. VDR rs2228570 has shown an association with essential tremor (ET) in a previous study. The aim of this study is to look for the association between several common variants in these genes and the risk for ET. We genotyped 272 patients diagnosed with familial ET and 272 age-matched controls using specific TaqMan assays for VDR rs2228570, VDR rs731236, VDR rs7975232, VDR rs739837, VDR rs78783628, GC rs7041, and GC rs4588 single nucleotide variants (SNVs). We found an association between GC rs7041 SNV and ET using recessive, codominant, and allelic models. Despite our results did not find an association between VDR rs2228570 and ET, the pooled data with those by a previous report suggest this association under recessive, codominant, and allelic models. None of the SNVs studied was related to the age at onset of tremor in ET patients. Data from the current study suggest an association between GC rs7041 and VDR rs2228570 SNVs and ET risk.
几项研究表明，维生素 D 受体 (VDR) 和 GC 维生素 D 结合蛋白 (GC) 基因中的某些变体与帕金森病或其他神经紊乱的风险之间存在关联。先前的一项研究表明，VDR rs2228570 与特发性震颤 (ET) 有关。本研究旨在研究这些基因中的几个常见变体与 ET 风险之间的关联。我们使用特定的 TaqMan 测定法对 272 名确诊为家族性 ET 的患者和 272 名年龄匹配的对照者进行了 VDR rs2228570、VDR rs731236、VDR rs7975232、VDR rs739837、VDR rs78783628、GC rs7041 和 GC rs4588 单核苷酸变异 (SNV) 的基因分型。我们发现 GC rs7041 SNV 与 ET 之间存在隐性、共显性和等位基因模型的关联。尽管我们的结果没有发现 VDR rs2228570 与 ET 之间的关联，但与之前的报告汇总数据表明，在隐性、共显性和等位基因模型下存在这种关联。研究中没有一个 SNV 与 ET 患者的震颤发病年龄有关。当前研究的数据表明，GC rs7041 和 VDR rs2228570 SNV 与 ET 风险之间存在关联。
