Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

NEUROBIOLOGY OF AGING

卷:72

Article

Bencheikh, Bouchra Ouled Amar^1,2  Leveille, Etienne³  Ruskey, Jennifer A.^1,4  Spiegelman, Dan¹  Liong, Christopher⁵  Fon, Edward A.^1,4,6,7  Rouleau, Guy A.^1,4,8  Dauvilliers, Yves⁹  Dupre, Nicolas^10,11  Alcalay, Roy N.^5,12  Gan-Or, Ziv^1,4,6,7,8 

[1] McGill Univ, Montreal Neurol Inst, 1033 Pine Ave West,Ludmer Pavil,Room 312, Montreal, PQ H3A 1A1, Canada

[2] Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ, Canada

[3] McGill Univ, Fac Med, Montreal, PQ, Canada

[4] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[5] Columbia Univ, Dept Neurol, Med Ctr, Coll Phys & Surg, New York, NY USA

[6] McGill Univ, McGill Parkinson Program, Montreal Neurol Inst, Montreal, PQ, Canada

[7] McGill Univ, Neurodegenerat Dis Grp, Montreal Neurol Inst, Montreal, PQ, Canada

[8] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[9] CHU Montpellier, Natl Reference Network Narcolepsy, Sleep Unit, Hop Gui de Chauliac,Dept Neurol,INSERM,U1061, Montpellier, France

[10] Univ Laval, Axe Neurosci, CHU Quebec, Quebec City, PQ, Canada

[11] Laval Univ, Dept Med, Fac Med, Quebec City, PQ, Canada

[12] Columbia Univ, Med Ctr, Coll Phys & Surg, Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY USA

关键词: Parkinson's disease;    GBA;    Saposin C;    Genetics;   

DOI  :  10.1016/j.neurobiolaging.2018.06.034

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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