Year: 2026
Type: article
Abstract: Background and Objectives: Known pathogenic variants (PVs) in Parkinson disease (PD) contribute to disease development but have yet to be fully explored by arrays on a large scale. This study evaluated genotyping success of the NeuroBooster array (NBA) and determined the frequencies of PVs across ancestries. Methods: We analyzed the presence and allele frequency of PVs 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 (GP2) data set. Cluster plots were used to assess the quality of PVs genotyped on NBA. Results: Genes previously predicted to have high or very high confidence of causing PD tend to have more PVs and are present across ancestry groups. Of 34 known PD gene PVs assessed, 25 were typed by NBA and classified as "good" (n = 12), "medium" (n = 4), or "bad" (n = 9) quality variants. Discussion: Our results confirm the likelihood that established PD genes are pathogenic and highlight the importance of ancestrally diverse research in PD. We also show the usefulness of the NBA as a reliable tool for the genotyping of rare variants of PD.
Source: Neurology Genetics
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,300
Funders: U.S. Department of Health and Human Services, Michael J. Fox Foundation for Parkinson's Research, Bristol-Myers Squibb, Pfizer, GlaxoSmithKline, Sanofi, Celgene, Verily Life Sciences, National Institutes of Health, National Institute on Aging, National Institute of Neurological Disorders and Stroke
Awards: G1015033697, G1021142248, G3052295486
OpenAlex ID: W7154120106