| Literature DB >> 30037697 |
Bouchra Ouled Amar Bencheikh1, Etienne Leveille2, Jennifer A Ruskey3, Dan Spiegelman4, Christopher Liong5, Edward A Fon6, Guy A Rouleau7, Yves Dauvilliers8, Nicolas Dupre9, Roy N Alcalay10, Ziv Gan-Or11.
Abstract
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.Entities:
Keywords: GBA; Genetics; Parkinson's disease; Saposin C
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Year: 2018 PMID： 30037697 PMCID： PMC6215722 DOI： 10.1016/j.neurobiolaging.2018.06.034
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673