Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?
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 nonsy...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2024-10-01
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| Series: | npj Parkinson's Disease |
| Online Access: | https://doi.org/10.1038/s41531-024-00809-9 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Konstantin Senkevich |
| collection | DOAJ |
| description | 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). |
| format | Article |
| id | doaj-art-0ec195e276c84eb0a0914dc2c12af9bb |
| institution | OA Journals |
| issn | 2373-8057 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Parkinson's Disease |
| spelling | doaj-art-0ec195e276c84eb0a0914dc2c12af9bb2025-08-20T02:11:25ZengNature Portfolionpj Parkinson's Disease2373-80572024-10-011011510.1038/s41531-024-00809-9Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?Konstantin Senkevich0Sitki Cem Parlar1Cloe Chantereault2Eric Yu3Jamil Ahmad4Jennifer A. Ruskey5Farnaz Asayesh6Dan Spiegelman7Cheryl Waters8Oury Monchi9Yves Dauvilliers10Nicolas Dupré11Irina Miliukhina12Alla Timofeeva13Anton Emelyanov14Sofya Pchelina15Lior Greenbaum16Sharon Hassin-Baer17Roy N. Alcalay18Ziv Gan-Or19The Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityDepartment of Neurology, College of Physicians and Surgeons, New YorkDepartment of Neurology and neurosurgery, McGill UniversityNational Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of MontpellierNeuroscience axis, CHU de Québec-Université LavalInstitute of the Human Brain of RASFirst Pavlov State Medical University of St. PetersburgFirst Pavlov State Medical University of St. PetersburgFirst Pavlov State Medical University of St. PetersburgFaculty of Medicine, Tel Aviv UniversityFaculty of Medicine, Tel Aviv UniversityDepartment of Neurology, College of Physicians and Surgeons, New YorkThe Neuro (Montreal Neurological Institute-Hospital), McGill UniversityAbstract 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).https://doi.org/10.1038/s41531-024-00809-9 |
| spellingShingle | 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 Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? npj Parkinson's Disease |
| title | Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? |
| title_full | Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? |
| title_fullStr | Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? |
| title_full_unstemmed | Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? |
| title_short | Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? |
| title_sort | are rare heterozygous synj1 variants associated with parkinson s disease |
| url | https://doi.org/10.1038/s41531-024-00809-9 |
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