BDNF Val66Met polymorphism in primary adult-onset dystonia: A case-control study and meta-analysis
Funding agencies: This study was supported by grants from the Ministerio de Economía y Competitividad de España (SAF2007-60700), the Instituto de Salud Carlos III (CP08/00174, PI10/01674, PI13/01461), the Consejería de Economía, Innovación, Ciencia y Empresa de la Junta de Andalucía (CVI-02526, CTS-7685), the Consejería de Salud y Bienestar Social de la Junta de Andalucía (PI-0377/2007, PI-0741/2010, PI-0437-2012, PI-0471/2013), the Sociedad Andaluza de Neurología, the Fundación Alicia Koplowitz, the Fundación Mutua Madrileña and the Jaques and Gloria Gossweiler Foundation. Dr. Pilar Gómez-Garre was supported by the “Miguel Servet” program at the Instituto de Salud Carlos III.
Relevant conflicts of interest/financial disclosures: Nothing to report.
Author roles may be found in the online version of this article.
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.
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).
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.
We did not find any evidence supporting the association of the BDNF Val66Met polymorphism with primary dystonia. © 2014 International Parkinson and Movement Disorder Society