Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.

ABSTRACT:

Background

GBA mutations are numerically the most significant genetic risk factor for Parkinson's disease (PD), yet these mutations have low penetrance, suggesting additional mechanisms.

Objectives

The objective of this study was to determine if the penetrance of GBA in PD can be explained by regulatory effects on GBA and modifier genes.

Methods

Genetic variants associated with the regulation of GBA were identified by screening 128 common single nucleotide polymorphisms (SNPs) in the GBA locus for spatial cis-expression quantitative trail locus (supported by chromatin interactions).

Results

We identified common noncoding SNPs within GBA that (1) regulate GBA expression in peripheral tissues, some of which display α-synuclein pathology and (2) coregulate potenti

SUBMITTER: Schierding W 

PROVIDER: S-EPMC7496525 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature