Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
Acta Neurol Scand. 2010 Jul;122(1):41-5. doi: 10.1111/j.1600-0404.2009.01253.x. Epub 2010 Jan 19.
Parkinson's disease (PD) is characterized by the dopaminergic neuronal death in substantia nigra, and genetic factors appear to be involved in the pathophysiology of this disease. Brain-derived neurotrophic factor (BDNF) is widely expressed in the central nervous system and is necessary for the survival of dopaminergic neurons in substantia nigra. G196A, a common polymorphism of the BDNF gene, not only affects cognitive and motor processes, but also is associated with various psychiatric disorders. We evaluated whether G196A polymorphism is associated with PD and/or modifies clinical manifestations in PD patients.
We included 193 PD patients and 300 control subjects. G196A polymorphism was screened by restriction fragment length polymorphism analysis. Clinical features of each patient were examined in detail. The possible association between genotype and clinical characteristics were determined by bivariate and multivariate analyses.
The distribution of G196A allele and genotype frequency was similar between PD and control subjects. Clinical characteristics, including Hoehn-Yahr stage, motor symptoms, non-motor symptoms (depression, cognitive dysfunction, psychiatric dysfunctions, and sleep behavior disorder), and dyskinesias, were not associated with this polymorphism.
G196A polymorphism is not a risk factor for PD and does not seem to modify clinical features in PD patients studied here.
帕金森病(PD)的特征是黑质多巴胺能神经元死亡,遗传因素似乎参与了这种疾病的病理生理学过程。脑源性神经营养因子(BDNF)广泛表达于中枢神经系统,对黑质多巴胺能神经元的存活是必需的。BDNF 基因的 G196A 常见多态性不仅影响认知和运动过程,而且与各种精神障碍有关。我们评估了 G196A 多态性是否与 PD 相关,以及是否改变 PD 患者的临床表现。
我们纳入了 193 名 PD 患者和 300 名对照。通过限制性片段长度多态性分析筛选 G196A 多态性。详细检查每位患者的临床特征。通过双变量和多变量分析确定基因型与临床特征之间的可能关联。
PD 患者和对照组的 G196A 等位基因和基因型频率分布相似。该多态性与临床特征无关,包括 Hoehn-Yahr 分期、运动症状、非运动症状(抑郁、认知功能障碍、精神功能障碍和睡眠行为障碍)和运动障碍。
G196A 多态性不是 PD 的危险因素,也似乎不会改变本研究中 PD 患者的临床特征。