大型中国帕金森病队列中磷脂酶 A2 超家族基因的全面变异分析

IF 5.3 3区医学 Q2 CELL BIOLOGY Mechanisms of Ageing and Development Pub Date : 2024-05-14 DOI:10.1016/j.mad.2024.111940

Jiabin Liu , Yige Wang , Yuwen Zhao , Hongxu Pan , Zhenhua Liu , Qian Xu , Shen Lu , Hong Jiang , Junling Wang , Qiying Sun , Jieqiong Tan , Xinxiang Yan , Jinchen Li , Beisha Tang , Jifeng Guo

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引用次数: 0

摘要

为了明确磷脂酶 A2（PLA2）基因在帕金森病中的遗传作用，我们利用新一代测序技术在一个大型中国人群队列中开展了一项遗传关联研究。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异。我们在两个队列中分别发现了 1558 个和 1115 个罕见变异。在这两个队列中，我们观察到特定亚组与帕金森病之间存在提示性关联。在单基因水平上，一些基因（PLA2G2D、PLA2G12A、PLA2G12B、PLA2G4F、PNPLA1、PNPLA3、PNPLA7、PLA2G7、PLA2G15、PLAAT5 和 ABHD12）显示出与帕金森病的提示性关联。同时，在两个队列中分别发现了 364 个和 2261 个常见变异。我们的研究扩大了 PLA2 家族基因的遗传谱，并提出了 PLA2 超家族在帕金森病中的潜在致病作用。

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Comprehensive variant analysis of phospholipase A2 superfamily genes in large Chinese Parkinson’ s disease cohorts

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.

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来源期刊

Mechanisms of Ageing and Development 医学-老年医学

CiteScore

11.10

自引率

1.90%

发文量

审稿时长

32 days

期刊介绍： Mechanisms of Ageing and Development is a multidisciplinary journal aimed at revealing the molecular, biochemical and biological mechanisms that underlie the processes of aging and development in various species as well as of age-associated diseases. Emphasis is placed on investigations that delineate the contribution of macromolecular damage and cytotoxicity, genetic programs, epigenetics and genetic instability, mitochondrial function, alterations of metabolism and innovative anti-aging approaches. For all of the mentioned studies it is necessary to address the underlying mechanisms. Mechanisms of Ageing and Development publishes original research, review and mini-review articles. The journal also publishes Special Issues that focus on emerging research areas. Special issues may include all types of articles following peered review. Proposals should be sent directly to the Editor-in-Chief.