Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?

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2024年10月25日

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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

摘要

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).