Identification of 27 allele-specific regulatory variants in Parkinson's disease using a massively parallel reporter assay.

ABSTRACT: Genome wide association studies (GWAS) have identified a number of genomic loci that are associated with Parkinson's disease (PD) risk. However, the majority of these variants lie in non-coding regions, and thus the mechanisms by which they influence disease development, and/or potential subtypes, remain largely elusive. To address this, we used a massively parallel reporter assay (MPRA) to screen the regulatory function of 5254 variants that have a known or putative connection to PD. We identified 138 loci with enhancer activity, of which 27 exhibited allele-specific regulatory activity in HEK293 cells. The identified regulatory variant(s) typically did not match the original tag variant within the PD associated locus, supporting the need for deeper exploration of these loci. The existenc

SUBMITTER: Farrow SL 

PROVIDER: S-EPMC10899198 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature