Journal
NEUROBIOLOGY OF AGING
Volume 72, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2018.06.034
Keywords
Parkinson's disease; GBA; Saposin C; Genetics
Categories
Funding
- Michael J. Fox Foundation
- Canadian Consortium on Neurodegeneration in Aging
- Canadian Glycomics Network
- Canada First Research Excellence Fund
- Fonds de recherche du Quebec-Sante Chercheurs-boursiers award
- Parkinson's Foundation
- National Institutes of Health [K02NS080915, UL1 TR000040]
- Brookdale Foundation
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Saposin C (SapC), encoded by PSAP, is required for the activity of glucocerebrosidase, encoded by GBA. Although GBA mutations have been studied thoroughly in Parkinson disease (PD), genetic studies on SapC are still lacking. PSAP was sequenced in 1123 PD patients and 1153 controls, and data from additional 1167 patients and 1685 controls were examined. A total of 6 patients had SapC mutations in the 2 combined cohorts, but no statistically significant association after correction for multiple comparisons was found. Larger studies are necessary to examine the role of very rare SapC variants in PD. (C) 2018 Elsevier Inc. All rights reserved.
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