title: A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor.
abstract: OBJECTIVE
  Despite many data suggesting a role of genetic factors in the risk for essential tremor (ET), the responsible genes have not been identified. We analyzed in ET Spanish families three single nucleotide polymorphisms (SNPs): DRD3 rs6280, SLC1A2 rs3794087, and MAPT rs1052553) previously related to an increased risk for developing the disease.
  
  
  METHODS
  We recruited 45 subjects with ET and 13 subjects without tremor belonging to 11 families who were evaluated because of familial tremor. Diagnosis of probable or definite ET was done according to TRIG criteria. Genotyping of the 3 SNPs was done using TaqMan-based qPCR assays. Data were compared with those of healthy controls of our laboratory. Family-based association testing for disease traits was performed as well.
  
  
  RESULTS
  rs6280 and rs3794087 genotype and allelic frequencies did not differ significantly between subjects with ET and healthy controls. However, rs1052553AA genotype and the allele rs1052553A allele were significantly more frequent among ET patients. rs1052553A allele was non-significantly overrepresented in ET patients compared with controls when considering only the more severely affected member of each ET family. Family-based association test for disease traits showed lack of association between ET and the three SNPs studied.
  
  
  CONCLUSIONS
  Our results showed a lack of association between rs6280 and rs3794087 with the risk for ET, though a marginal increased risk for ET was observed among the rs1052553A allele carriers, which was not confirmed with a family-based association study.
authors.affiliation: a Section of Neurology , Hospital Universitario del Sureste , Arganda del Rey , Spain.|b Department of Medicine-Neurology , Hospital "Príncipe de Asturias", Universidad de Alcalá , Alcalá de Henares , Spain.
authors.forename: Félix Javier
authors.initials: FJ
authors.lastname: Jiménez-Jiménez
authors.affiliation: c Department of Pharmacology , Universidad de Extremadura , Cáceres , Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: García-Martín
authors.affiliation: a Section of Neurology , Hospital Universitario del Sureste , Arganda del Rey , Spain.|b Department of Medicine-Neurology , Hospital "Príncipe de Asturias", Universidad de Alcalá , Alcalá de Henares , Spain.
authors.forename: Hortensia
authors.initials: H
authors.lastname: Alonso-Navarro
authors.affiliation: d Neurogenetics Laboratory, Division of Neurosciences , Center for Applied Medical Research, Universidad de Navarra , Pamplona , Spain.|e Department of Neurology , Complejo Asistencial Universitario de Palencia , Palencia , Spain.
authors.forename: Oswaldo
authors.initials: O
authors.lastname: Lorenzo-Betancor
authors.affiliation: d Neurogenetics Laboratory, Division of Neurosciences , Center for Applied Medical Research, Universidad de Navarra , Pamplona , Spain.|e Department of Neurology , Complejo Asistencial Universitario de Palencia , Palencia , Spain.|f CIBERNED,Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas , Instituto de Salud Carlos III , Madrid , Spain.
authors.forename: Sara
authors.initials: S
authors.lastname: Ortega-Cubero
authors.affiliation: d Neurogenetics Laboratory, Division of Neurosciences , Center for Applied Medical Research, Universidad de Navarra , Pamplona , Spain.|f CIBERNED,Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas , Instituto de Salud Carlos III , Madrid , Spain.|g Movement Disorders Unit, Deparment of of Neurology , Hospital Mutua de Terrassa , Terrassa , Spain.
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.affiliation: a Section of Neurology , Hospital Universitario del Sureste , Arganda del Rey , Spain.
authors.forename: Marisol
authors.initials: M
authors.lastname: Calleja
authors.affiliation: c Department of Pharmacology , Universidad de Extremadura , Cáceres , Spain.
authors.forename: José A G
authors.initials: JA
authors.lastname: Agúndez
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020329:Essential Tremor / Q000235:genetics*; D027342:Excitatory Amino Acid Transporter 2; D005192:Family Health; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D050491:Glutamate Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D050637:Receptors, Dopamine D3 / Q000235:genetics*; D055815:Young Adult; D016875:tau Proteins / Q000235:genetics*
chemical_list: C493593:DRD3 protein, human; D027342:Excitatory Amino Acid Transporter 2; D050491:Glutamate Plasma Membrane Transport Proteins; C054369:MAPT protein, human; D050637:Receptors, Dopamine D3; C493397:SLC1A2 protein, human; D016875:tau Proteins
keywords: DRD3 gene; Essential tremor; Genetics; MAPT gene; Polymorphisms; Risk factors; SLC1A2 gene