Authors
César Luis Ávila, Mariam Isayan, Yasser Mecheri, Paula Saffie-Awad, María Milagros Leila, Laurel A Screven, Hampton Leonard, Maria Teresa Periñan, Sheila Yeboah, Kristin Levine, Mary B Makarious, Global Parkinson's Genetics Program (GP2)
Published in
Movement disorders : official journal of the Movement Disorder Society. Jul 30, 2026. Epub Jul 30, 2026.
Abstract
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.
The objective for this study was to explore the association between common and rare variants in DNAJC13 and PD.
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.
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.
Our analysis did not find further evidence supporting DNAJC13 involvement in PD. However, studies of even larger cohorts and AD-PD families may bring definite answers about the role of DNAJC13 in PD. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
PMID:
42532853
Bibliographic data and abstract were imported from PubMed on 31 Jul 2026.
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