| Title: | Are rare heterozygous SYNJ1 variants associated with Parkinson's disease? |
| Journal: | npj Parkinson's Disease |
| Published: | 25 Oct 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/39455605/ |
| DOI: | https://doi.org/10.1038/s41531-024-00809-9 |
Publication 13197
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Abstract
Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson's disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, < 50 years) and 70,363 controls. Burden meta-analysis revealed an association between rare nonsynonymous variants and variants with high Combined Annotation-Dependent Depletion score (> 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.040). A meta-analysis of EOPD patients demonstrated an association between all rare heterozygous SYNJ1 variants and PD (Pfdr = 0.029).</p>
20 Authors
- Konstantin Senkevich
- Sitki Cem Parlar
- Cloe Chantereault
- Eric Yu
- Jamil Ahmad
- Jennifer A. Ruskey
- Farnaz Asayesh
- Dan Spiegelman
- Cheryl Waters
- Oury Monchi
- Yves Dauvilliers
- Nicolas Dupré
- Irina Miliukhina
- Alla Timofeeva
- Anton Emelyanov
- Sofya Pchelina
- Lior Greenbaum
- Sharon Hassin-Baer
- Roy N. Alcalay
- Ziv Gan-Or
1 Application
| Application ID | Title |
|---|---|
| 45551 | Mechanistic modelling of neurodevelopment, neuroplasticity, and neurodegeneration |
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