Jul 2026· Movement Disorders· 0 citations· 27 references
Medicine
TL;DR
Burden analysis showed no association between rare variants in DNAJC13 and PD, however, association analysis within common nonsynonymous variants nominated five variants within DNAJC13, and these associations require further investigation.
Abstract
Background
DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
Objective
The objective for this study was to explore the association between common and rare variants in DNAJC13 and PD.
Methods
We leveraged the largest available PD genetics data from the Accelerating Medicines Partnership-Parkinson Disease and the diverse ancestry available through the Global Parkinson's Genetics Program (GP2), consisting of 2471 patients and 3098 control subjects and 44,186 patients and 27,066 control subjects, respectively, to perform burden tests and association tests for rare and common variants, respectively.
Results
Burden analysis showed no association between rare variants in DNAJC13 and PD. However, association analysis within common nonsynonymous variants nominated five variants within DNAJC13. Nevertheless, these associations require further investigation.
Background An X-linked levodopa-responsive parkinsonism-epilepsy syndrome has been associated with PGK1, and the gene lies within the previously suspected PD locus PARK12. Objective To examine the association of common and rare PGK1 variants with PD. Methods We analyzed common and rare variants from Accelerated Medicin...
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These findings improve the understanding of the genetics of PD across ancestry groups and highlight the importance of including diverse populations in genetic studies to identify ancestry-specific risk variants.
Q. Sun, E. Ng, T. S. Toh et al.· medRxiv· 0 citations
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