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Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?
Senkevich, Konstantin; Parlar, Sitki Cem; Chantereault, Cloe; Yu, Eric; Ahmad, Jamil; Ruskey, Jennifer A; Asayesh, Farnaz; Spiegelman, Dan; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N; Gan-Or, Ziv.
Affiliation
  • Senkevich K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Parlar SC; Department of Neurology and neurosurgery, McGill University, Montréal, QC, Canada, Canada.
  • Chantereault C; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Yu E; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Ahmad J; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Ruskey JA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Asayesh F; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Spiegelman D; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Waters C; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Monchi O; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Dauvilliers Y; Department of Neurology and neurosurgery, McGill University, Montréal, QC, Canada, Canada.
  • Dupré N; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Miliukhina I; Department of Neurology and neurosurgery, McGill University, Montréal, QC, Canada, Canada.
  • Timofeeva A; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Emelyanov A; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Pchelina S; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Greenbaum L; Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, NY, USA.
  • Hassin-Baer S; Department of Neurology and neurosurgery, McGill University, Montréal, QC, Canada, Canada.
  • Alcalay RN; Département de radiologie, radio-oncologie et médecine nucléaire, Université de Montréal, Montréal, QC, Canada.
  • Gan-Or Z; Centre de recherche de l'Institut universitaire de gériatrie de Montréal, Montréal, QC, Canada.
medRxiv ; 2024 Jun 01.
Article in En | MEDLINE | ID: mdl-38853950
ABSTRACT
Previous studies have suggested that rare biallelic SYNJ1 mutations may cause autosomal recessive parkinsonism and Parkinson's disease (PD). Our study explored the impact of rare SYNJ1 variants in non-familial settings, including 8,165 PD cases, 818 early-onset PD (EOPD, <50 years) and 70,363 controls. Burden meta-analysis using optimized sequence Kernel association test (SKAT-O) revealed an association between rare nonsynonymous variants in the Sac1 SYNJ1 domain and PD (Pfdr=0.040). Additionally, a meta-analysis focusing on patients with EOPD demonstrated an association between all rare SYNJ1 variants and PD (Pfdr=0.029). Rare SYNJ1 variants may be associated with sporadic PD, and more specifically with EOPD.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: MedRxiv Year: 2024 Document type: Article Affiliation country: Canadá
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: MedRxiv Year: 2024 Document type: Article Affiliation country: Canadá