The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.
Int J Mol Sci
; 25(9)2024 Apr 27.
Article
in En
| MEDLINE
| ID: mdl-38732020
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Parkinson Disease
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
Limits:
Humans
Language:
En
Journal:
Int J Mol Sci
Year:
2024
Type:
Article
Affiliation country:
United States