Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; Centre for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Mech Ageing Dev. 2024 Jun;219:111940. doi: 10.1016/j.mad.2024.111940. Epub 2024 May 14.
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.
为了阐明磷脂酶 A2（PLA2）基因在帕金森病（PD）中的遗传作用，我们使用下一代测序技术在大型中国人群队列中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 基因的罕见和常见变体。我们分别在这两个队列中检测到了 1558 和 1115 个罕见变体。在两个队列中，我们观察到特定亚组与 PD 风险之间存在提示性关联。在单基因水平上，几个基因（PLA2G2D、PLA2G12A、PLA2G12B、PLA2G4F、PNPLA1、PNPLA3、PNPLA7、PLA2G7、PLA2G15、PLAAT5 和 ABHD12）与 PD 有提示性关联。同时，分别在两个队列中鉴定了 364 个和 2261 个常见变体。我们的研究扩展了 PLA2 家族基因的遗传谱，并提示 PLA2 超家族在 PD 中的潜在发病作用。
