Abstract：
To clarify the genetic role of phospholipase A2 (PLA2) genes in Parkinson\'s disease (PD), we performed a genetic association study in large Chinese population cohorts using next-generation sequencing. In this study, we analyzed both rare and common variants of 38 phospholipase A2 genes in two large cohorts. We detected 1558 and 1115 rare variants in these two cohorts, respectively. In both cohorts, we observed suggestive associations between specific subgroups and the risk of PD. At the single-gene level, several genes (PLA2G2D, PLA2G12A, PLA2G12B, PLA2G4F, PNPLA1, PNPLA3, PNPLA7, PLA2G7, PLA2G15, PLAAT5, and ABHD12) are suggestively associated with PD. Meanwhile, 364 and 2261 common variants were identified in two cohorts, respectively. Our study has expanded the genetic spectrum of the PLA2 family genes and suggested potential pathogenetic roles of PLA2 superfamily in PD.
摘要：
阐明磷脂酶A2(PLA2)基因在帕金森病中的遗传作用,我们在一个大型中国人群队列中使用下一代测序进行了遗传关联研究.在这项研究中,我们分析了两个大型队列中38个磷脂酶A2基因的罕见变异和常见变异.我们在两个队列中检测到1558和1115个罕见变异，分别。在这两个队列中，我们观察到特定亚组与帕金森病之间的暗示性关联。在单基因水平上,几个基因(PLA2G2D，PLA2G12A,PLA2G12B,PLA2G4F,PNPLA1，PNPLA3，PNPLA7，PLA2G7，PLA2G15，PLAAT5和ABHD12）在帕金森病中显示出暗示性意义。同时,在两个队列中鉴定了364和2261个常见变体，分别。我们的研究扩展了PLA2家族基因的遗传谱，并提示了PLA2超家族在帕金森病中的潜在致病作用。
