title: BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis.
abstract: BACKGROUND
  A polymorphism in brain-derived neurotrophic factor (BDNF) (Val66Met) has been reported as a risk factor in primary dystonia. However, overall the results have been inconclusive. Our aim was to clarify the association of Val66Met with primary dystonia, and with the most prevalent clinical subtypes, cervical dystonia and blepharospasm.
  
  
  METHODS
  We conducted a Spanish multicenter case-control study (including 680 primary dystonia patients and 788 healthy controls) and performed a meta-analysis integrating our study and six previously published studies (including a total of 1,936 primary dystonia patients and 2,519 healthy controls).
  
  
  RESULTS
  We found no allelic or genotypic association with primary dystonia, cervical dystonia, or blepharospasm risks, for the allele A (Met) from a BDNF Val66Met polymorphism in our case-control study. This was confirmed by results from our meta-analysis in white and mixed ethnic populations in any genetic model.
  
  
  CONCLUSIONS
  We did not find any evidence supporting the association of the BDNF Val66Met polymorphism with primary dystonia.
authors.affiliation: Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Gómez-Garre
authors.forename: Ismael
authors.initials: I
authors.lastname: Huertas-Fernández
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Cáceres-Redondo
authors.forename: Araceli
authors.initials: A
authors.lastname: Alonso-Canovas
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Bernal-Bernal
authors.forename: Alberto
authors.initials: A
authors.lastname: Blanco-Ollero
authors.forename: Marta
authors.initials: M
authors.lastname: Bonilla-Toribio
authors.forename: Juan Andrés
authors.initials: JA
authors.lastname: Burguera
authors.forename: Manuel
authors.initials: M
authors.lastname: Carballo
authors.forename: Fátima
authors.initials: F
authors.lastname: Carrillo
authors.forename: María José
authors.initials: MJ
authors.lastname: Catalán-Alonso
authors.forename: Francisco
authors.initials: F
authors.lastname: Escamilla-Sevilla
authors.forename: Raúl
authors.initials: R
authors.lastname: Espinosa-Rosso
authors.forename: María Carmen
authors.initials: MC
authors.lastname: Fernández-Moreno
authors.forename: Juan
authors.initials: J
authors.lastname: García-Caldentey
authors.forename: José Manuel
authors.initials: JM
authors.lastname: García-Moreno
authors.forename: Pedro José
authors.initials: PJ
authors.lastname: García-Ruiz
authors.forename: Sandra
authors.initials: S
authors.lastname: Giacometti-Silveira
authors.forename: Javier
authors.initials: J
authors.lastname: Gutiérrez-García
authors.forename: Silvia
authors.initials: S
authors.lastname: Jesús
authors.forename: Eva
authors.initials: E
authors.lastname: López-Valdés
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Martínez-Castrillo
authors.forename: Irene
authors.initials: I
authors.lastname: Martínez-Torres
authors.forename: María Pilar
authors.initials: MP
authors.lastname: Medialdea-Natera
authors.forename: Carolina
authors.initials: C
authors.lastname: Méndez-Lucena
authors.forename: Adolfo
authors.initials: A
authors.lastname: Mínguez-Castellanos
authors.forename: Miguel
authors.initials: M
authors.lastname: Moya
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Ochoa-Sepulveda
authors.forename: Tomás
authors.initials: T
authors.lastname: Ojea
authors.forename: Nuria
authors.initials: N
authors.lastname: Rodríguez
authors.forename: Miriam
authors.initials: M
authors.lastname: Sillero-Sánchez
authors.forename: Laura
authors.initials: L
authors.lastname: Vargas-González
authors.forename: Pablo
authors.initials: P
authors.lastname: Mir
mesh_terms: D000328:Adult; D000368:Aged; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D016022:Case-Control Studies; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D019208:Brain-Derived Neurotrophic Factor; D008715:Methionine; D014633:Valine
keywords: BDNF; Primary dystonia; Val66Met; association study; meta-analysis