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

Area of Science:

• Genetics
• Neuroscience
• Genomics

Background:

• Pathogenic variants in Parkinson's disease (PD) are known contributors to disease development.
• Large-scale exploration of these variants using genotyping arrays is limited.

Purpose of the Study:

• Evaluate the genotyping success of the NeuroBooster array (NBA).
• Determine the frequencies of pathogenic variants across diverse ancestries in Parkinson's disease.

Main Methods:

• Analyzed 34 pathogenic variants in a large dataset (28,710 PD cases, 9,614 other neurodegenerative cases, 15,821 controls) across 11 ancestries.
• Genotyped 25 variants on the NBA and assessed quality using cluster plots.

Main Results:

• Genes with high confidence for causing PD showed more pathogenic variants and were present across ancestries.
• The NBA successfully genotyped 25 of 34 variants, with varying quality classifications (12 good, 4 medium, 9 bad).

Conclusions:

• Established Parkinson's disease genes are confirmed as pathogenic.
• Ancestrally diverse research is crucial for understanding PD genetics.
• The NBA is a useful tool for genotyping rare variants in PD research.