Abstract

Parkinson’s disease is now the most rapidly growing neurodegenerative disease worldwide. It is therefore critical to identify which factors, and to what extent, contribute to the multifactorial etiology of Parkinson’s disease. Here, we address two interesting elements from the perspective of genetics, namely (a) the estimated age of several genetic risk factors related to Parkinson’s disease; and (b) the relative contribution of genetics to the etiology of Parkinson’s disease, as derived from twin studies. Based on these two perspectives, we argue that most genetic risk factors are by themselves insufficient to explain the majority of Parkinson’s disease, and that environmental factors are required for these genetic factors to become pathophysiologically relevant.

中文翻译：

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帕金森病的病因学：基因与环境相互作用的新视角

摘要

帕金森病现在是全球增长最快的神经退行性疾病。因此，确定哪些因素以及在多大程度上导致帕金森病的多因素病因至关重要。在这里，我们从遗传学的角度讨论两个有趣的因素，即（a）与帕金森病相关的几个遗传风险因素的估计年龄；(b) 来自双胞胎研究的遗传学对帕金森病病因学的相对贡献。基于这两个观点，我们认为大多数遗传风险因素本身不足以解释大多数帕金森病，并且这些遗传因素需要环境因素才能变得具有病理生理学相关性。