Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Centre de Recherche, Centre Hospitalier de l'Universite de Montreal, Montreal, Canada.
Faculty of Medicine, McGill University, Montréal, QC, Canada.
Neurobiol Aging. 2018 Dec;72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2.
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.
脑苷脂激活蛋白 C（Saposin C，SapC）由 PSAP 编码，是葡萄糖脑苷脂酶（encoded by GBA）发挥活性所必需的。虽然 GBA 突变已在帕金森病（Parkinson disease，PD）中得到深入研究，但 SapC 的遗传研究仍相对缺乏。我们对 1123 名 PD 患者和 1153 名对照者进行了 PSAP 测序，并对另外 1167 名患者和 1685 名对照者的数据进行了检测。在这两个合并队列中，共有 6 名患者存在 SapC 突变，但经多重比较校正后，未发现统计学意义上的相关性。需要更大的研究来检测非常罕见的 SapC 变异在 PD 中的作用。
