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Lack of evidence for genetic association of saposins A, B, C and D with Parkinson disease

2020-06-01 genetic and genomic medicine Title + abstract only
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The PSAP gene encodes prosaposin, which is later cleaved into four active saposins: saposin A, B, C and D. Mutations in these enzymes have been linked to specific lysosomal storage disorders. Recently, a genetic association between mutations in saposin D and Parkinsons disease (PD) has been reported. To further examine whether variants in saposin D or the other saposins could be associated with Parkinsons disease, we performed Optimized Sequence Kernel Association Test (SKAT-O) in 4,132 Parkinso...

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