Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.

ABSTRACT:

Background

Known pathogenic variants in Parkinson's disease (PD) contribute to disease development but have yet to be fully explored by arrays at scale.

Objectives

This study evaluated genotyping success of the NeuroBooster array (NBA) and determined the frequencies of pathogenic variants across ancestries.

Method

We analyzed the presence and allele frequency of 34 pathogenic variants in 28,710 PD cases, 9,614 other neurodegenerative disorder cases, and 15,821 controls across 11 ancestries within the Global Parkinson's Genetics Program dataset. Of these, 25 were genotyped on NBA and cluster plots were used to assess their quality.

Results

Genes previously predicted to have high or very high confidence of causing PD tend to have more pathogenic variants and are

SUBMITTER: Hong S 

PROVIDER: S-EPMC11702716 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature