Gómez-Garre Pilar, Huertas-Fernández Ismael, Cáceres-Redondo María Teresa, Alonso-Canovas Araceli, Bernal-Bernal Inmaculada, Blanco-Ollero Alberto, Bonilla-Toribio Marta, Burguera Juan Andrés, Carballo Manuel, Carrillo Fátima, Catalán-Alonso María José, Escamilla-Sevilla Francisco, Espinosa-Rosso Raúl, Fernández-Moreno María Carmen, García-Caldentey Juan, García-Moreno José Manuel, García-Ruiz Pedro José, Giacometti-Silveira Sandra, Gutiérrez-García Javier, Jesús Silvia, López-Valdés Eva, Martínez-Castrillo Juan Carlos, Martínez-Torres Irene, Medialdea-Natera María Pilar, Méndez-Lucena Carolina, Mínguez-Castellanos Adolfo, Moya Miguel, Ochoa-Sepulveda Juan José, Ojea Tomás, Rodríguez Nuria, Sillero-Sánchez Miriam, Vargas-González Laura, Mir Pablo
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.
Mov Disord. 2014 Jul;29(8):1083-6. doi: 10.1002/mds.25938. Epub 2014 Jun 12.
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.
脑源性神经营养因子（BDNF）基因多态性（Val66Met）已被报道为原发性肌张力障碍的一个风险因素。然而，总体而言，结果尚无定论。我们的目的是阐明Val66Met与原发性肌张力障碍以及最常见的临床亚型——颈部肌张力障碍和眼睑痉挛之间的关联。
我们开展了一项西班牙多中心病例对照研究（包括680例原发性肌张力障碍患者和788例健康对照），并进行了一项荟萃分析，将我们的研究与之前发表的六项研究（总共包括1936例原发性肌张力障碍患者和2519例健康对照）整合在一起。
在我们的病例对照研究中，对于BDNF Val66Met多态性的A等位基因（Met），我们未发现其与原发性肌张力障碍、颈部肌张力障碍或眼睑痉挛风险存在等位基因或基因型关联。我们在白种人和混合种族人群中进行的任何遗传模型的荟萃分析结果均证实了这一点。
我们未发现任何证据支持BDNF Val66Met多态性与原发性肌张力障碍有关联。
