<scp> <i>DNAJC13</i> </scp> Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

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. CONCLUSIONS: 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.

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Publication Details

Journal
Movement Disorders
Published
2026-07-30
DOI
https://doi.org/10.1002/mds.70429
Primary Topic
Parkinson's Disease Mechanisms and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Yasser Mecheri, Mary B. Makarious, Laurel A. Screven, Mariam Isayan et al.
Movement Disorders
Parkinson's Disease Mechanisms and Treatments
article

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Yasser Mecheri, Mary B. Makarious, Laurel A. Screven, Mariam Isayan, María Teresa Periñán, César L. Ávila, Sheila Yeboah, Maria Milagros Leila, Kristin Levine, Hampton Leonard, Paula Saffie-Awad, the Global Parkinson's Genetics Program (GP2)
article en

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. CONCLUSIONS: 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.

Movement Disorders
A. Alikhanyan National Laboratory (AM), Consejo Superior de Investigaciones Científicas (ES), Queen Mary University of London (GB), University of Concepción (CL), Data Tecnica International (United States) (US), Centre Hospitalo-Universitaire Dr Benbadis Constantine (DZ), Centro Científico Tecnológico - Tucumán (AR), Instituto de Biomedicina de Sevilla (ES), Clinica Santa Maria (CL), Hospital Universitario Virgen del Rocío (ES), Universidad de Sevilla (ES)
Michael J. Fox Foundation for Parkinson's Research
Partnerships for the goals
Openalex Percentile: Top 9%
Parkinson's Disease Mechanisms and Treatments
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