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Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor.
Agúndez, José A G; García-Martín, Elena; Alonso-Navarro, Hortensia; Rodríguez, Christopher; Díez-Fairén, Mónica; Álvarez, Ignacio; Pastor, Pau; Benito-León, Julián; López-Alburquerque, Tomás; Jiménez-Jiménez, Félix Javier.
Affiliation
  • Agúndez JAG; Universidad de Extremadura, University Institute of Molecular Pathology Biomarker, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.
  • García-Martín E; Universidad de Extremadura, University Institute of Molecular Pathology Biomarker, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.
  • Alonso-Navarro H; Section of Neurology, Ronda del Sur 10, E28500 Argamda del Rey (Madrid), C/ Marroquina 14, 3o B, 28030, Madrid, Spain.
  • Rodríguez C; Universidad de Extremadura, University Institute of Molecular Pathology Biomarker, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.
  • Díez-Fairén M; Fundació Per La Recerça Biomèdica, Social Mútua de Terrassa, Terrassa, Barcelona, Spain.
  • Álvarez I; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain.
  • Pastor P; Fundació Per La Recerça Biomèdica, Social Mútua de Terrassa, Terrassa, Barcelona, Spain.
  • Benito-León J; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain.
  • López-Alburquerque T; Fundació Per La Recerça Biomèdica, Social Mútua de Terrassa, Terrassa, Barcelona, Spain.
  • Jiménez-Jiménez FJ; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain.
Mol Neurobiol ; 59(6): 3458-3466, 2022 Jun.
Article de En | MEDLINE | ID: mdl-35322382
ABSTRACT
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.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Récepteur calcitriol / Tremblement essentiel Type d'étude: Observational_studies / Risk_factors_studies Limites: Humans Langue: En Journal: Mol Neurobiol Sujet du journal: BIOLOGIA MOLECULAR / NEUROLOGIA Année: 2022 Type de document: Article Pays d'affiliation: Espagne

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Récepteur calcitriol / Tremblement essentiel Type d'étude: Observational_studies / Risk_factors_studies Limites: Humans Langue: En Journal: Mol Neurobiol Sujet du journal: BIOLOGIA MOLECULAR / NEUROLOGIA Année: 2022 Type de document: Article Pays d'affiliation: Espagne