Abstract
Objective: The aim of our study was to characterise polymorphic reference SINE-VNTR-Alus (SVA) in whole genome sequencing data from the Parkinson's Progression Markers Initiative (PPMI), a longitudinal Parkinson's disease (PD) cohort with extensive clinical and phenotypic data, to address their potential role in the predisposition to and progression of PD. SVAs are a hominid specific composite retrotransposon that are still actively mobilised in the human genome. SVAs can affect gene expression, mRNA splicing and have been identified as the cause of 12 genetic diseases including X-linked dystonia parkinsonism.
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