Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD 20892, USA.
Int J Mol Sci. 2024 Apr 27;25(9):4801. doi: 10.3390/ijms25094801.
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.
帕金森病（PD）严重影响着全球数百万人的健康。尽管我们对 PD 的遗传基础的理解已经取得了进展，但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遗传变异形式，即单核苷酸变异（SNVs），而其他重要的遗传变异形式，如结构性变异（SVs），由于传统测序方法检测这些变异的复杂性，大多被忽视。然而，这些形式的遗传变异在人类大脑的基因表达和调控中起着至关重要的作用，并导致许多神经疾病，包括 PD 的多种形式。本综述旨在全面概述我们目前对编码和非编码 SVs 在 PD 遗传结构中的作用的理解。
