Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden… - Brain, 2017 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also
potent risk factors for Parkinson's disease. We examined whether a genetic burden of
variants in other lysosomal storage disorder genes is more broadly associated with
Parkinson's disease susceptibility. The sequence kernel association test was used to
interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole
exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects …

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease (S1. 001)

L Robak, I Jansen, J van Rooij, A Uitterlinden, R Kraaj… - Neurology, 2017 - AAN Enterprises
Objective: To determine whether an aggregate burden of variants in lysosomal storage
disorder (LSD) genes besides GBA are associated with Parkinson's disease (PD)
susceptibility. Background: Parkinson's disease is a common neurodegenerative disorder
with evidence for substantial genetic etiology; however, the risk alleles identified to date
explain only a small portion of PD heritability. Pathogenic variants in GBA, which cause
Gaucher disease, are potent risk factors for PD, and other LSD genes have also been …
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