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Updated: Aug 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort
César Luis Ávila1, Mariam Isayan2, Yasser Mecheri3
1Instituto de Investigación en Medicina Molecular y Celular Aplicada (IMMCA), CONICET|UNT|SIPROSA, San Miguel de Tucumán, Argentina.
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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