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Updated: Aug 5, 2026
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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.
Summary
This study investigated DNAJC13 gene variants and Parkinson's disease (PD). No association was found between rare DNAJC13 variants and PD, but common variants require further research.
Area of Science:
- Genetics
- Neurodegenerative Diseases
- Molecular Biology
Background:
- DNAJC13 was previously linked to autosomal dominant Parkinson's disease (PD) via the p.N855S variant.
- Uncertainty regarding DNAJC13's role in PD persisted due to imperfect segregation and conflicting reports.
Purpose of the Study:
- To investigate the association between common and rare variants in the DNAJC13 gene and Parkinson's disease.
- To clarify the genetic contribution of DNAJC13 to PD etiology.
Main Methods:
- Utilized large-scale genetic datasets from the Accelerating Medicines Partnership-Parkinson Disease and Global Parkinson's Genetics Program.
- Performed burden tests for rare variants and association tests for common variants in DNAJC13.
Main Results:
- Rare variant burden analysis revealed no significant association between DNAJC13 and PD.
- Association analysis identified five common nonsynonymous variants within DNAJC13, warranting further investigation.
- No definitive link was established between DNAJC13 and PD in this study.
Conclusions:
- Current analysis does not support DNAJC13's involvement in Parkinson's disease.
- Larger cohort studies and families with autosomal dominant PD are needed to definitively ascertain DNAJC13's role.
- Further research is essential to resolve the genetic contribution of DNAJC13 to PD.
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