PDF(Pubmed)
Abstract：
Parkinson\'s disease (PD) significantly impacts millions of individuals worldwide. Although our understanding of the genetic foundations of PD has advanced, a substantial portion of the genetic variation contributing to disease risk remains unknown. Current PD genetic studies have primarily focused on one form of genetic variation, single nucleotide variants (SNVs), while other important forms of genetic variation, such as structural variants (SVs), are mostly ignored due to the complexity of detecting these variants with traditional sequencing methods. Yet, these forms of genetic variation play crucial roles in gene expression and regulation in the human brain and are causative of numerous neurological disorders, including forms of PD. This review aims to provide a comprehensive overview of our current understanding of the involvement of coding and noncoding SVs in the genetic architecture of PD.
摘要：
帕金森氏病（PD）严重影响全球数百万人。尽管我们对PD的遗传基础的理解已经进步，导致疾病风险的遗传变异的很大一部分仍然未知。目前的PD遗传研究主要集中在一种形式的遗传变异上，单核苷酸变体（SNV），而其他重要形式的遗传变异，例如结构变体(SV)，由于用传统测序方法检测这些变体的复杂性而被大多忽略。然而，这些形式的遗传变异在人脑的基因表达和调节中起着至关重要的作用，并且是许多神经系统疾病的原因，包括PD的形式。这篇综述旨在全面概述我们目前对编码和非编码SV在PD遗传结构中的参与的理解。
