Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor

被引：6

作者：

Agundez, Jose A. G. ^{[1
]}

Garcia-Martin, Elena ^{[1
]}

Alonso-Navarro, Hortensia ^{[2
]}

Rodriguez, Christopher ^{[1
]}

Diez-Fairen, Monica ^{[3
,4
]}

Alvarez, Ignacio ^{[3
,4
]}

Pastor, Pau ^{[3
,4
]}

Benito-Leon, Julian ^{[5
,6
]}

Lopez-Alburquerque, Tomas ^{[7
]}

Javier Jimenez-Jimenez, Felix ^{[2
,8
]}

机构：

[1] Univ Extremadura, Univ Inst Mol Pathol Biomarker, ARADyAL Inst Salud Carlos III, Caceres, Spain

[2] Sect Neurol, Ronda Sur 10,E28500 Argamda Rey Madrid, Madrid 28030, Spain

[3] Fundacio Recerca Biomed, Social Mutua Terrassa, Barcelona, Spain

[4] Hosp Univ Mutua Terrassa, Dept Neurol, Movement Disorders Unit, Barcelona, Spain

[5] Univ Complutense, Hosp Doce Octubre, Dept Med, Serv Neurol, Madrid, Spain

[6] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, CIBERNED, Madrid, Spain

[7] Hosp Univ Salamanca, Dept Neurol, Salamanca, Spain

[8] Univ Alcala, Hosp Principe Asturias, Dept Med Neurol, C Marroquina 14,3o B, Madrid 28030, Spain

来源：

MOLECULAR NEUROBIOLOGY | 2022年 / 59卷 / 06期

关键词：

Essential tremor; Genetics; Gene variants; VDR gene; GC vitamin D binding protein gene; ACID DEHYDRATASE GENE; RISK; POLYMORPHISMS; ASSOCIATION;

D O I：

10.1007/s12035-022-02804-8

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：3458 / 3466

页数：9

共 55 条

[1] Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort [J].