Article

Are rare heterozygous<i>SYNJ1</i>variants associated with Parkinson’s disease?

2024-06-01

Abstract excerpt

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 ra...

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Literature Corpus work: 456d7210-6d44-59e8-a628-0b138341c45f
DOI: 10.1101/2024.05.29.24307986

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