A 10-Year Community-Based Study of Leucine-Rich Repeat Kinase 2 G2385R Carriers' Conversion to Parkinson's Disease
A 10-Year Community-Based Study of Leucine-Rich Repeat Kinase 2 G2385R Carriers' Conversion to Parkinson's Disease
复制标题
针对富含亮氨酸重复激酶 2 G2385R 携带者转化为帕金森病的为期 10 年的社区研究
DOI：
10.1002/mds.29127
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发表时间：
2022-06-22
影响因子：
8.6
通讯作者：
Ma，Jianfang
中科院分区：
文献类型：
--
作者：
Wang，Pei;Pan，Jing;Ma，Jianfang
富亮氨酸重复蛋白激酶2(LRRK2)基因G2385R变异与亚洲人群帕金森病(PD)相关。目的探讨LRRK2 G2385R非显性携带者的帕金森病转阴率及临床特征。G2385R携带者和非携带者通过Sanger测序进行筛查，并在基线和后续评估时接受面对面的访谈。采用Kaplan-Meier法比较PD转化率。结果在联合队列中，329名携带者中26人(7.9%)发生帕金森病，345名非携带者中9人(2.6%)发生帕金森病(P= 0.0016)。COX回归模型证实G2385R变异是中国50岁以上人群帕金森病的重要危险因素(危险比为3.314；95%可信区间为1.551-7.078；P= 0.002)。携带者和非携带者的临床症状没有差异。结论我们证实，在10年的随访中，富含亮氨酸的重复蛋白激酶2 G2385R携带者的PD转换率增加。©2022国际帕金森病和运动障碍协会。
BackgroundThe G2385R variant of leucine‐rich repeat kinase 2 (LRRK2) is mainly associated with Parkinson's disease(PD) in Asian populations.ObjectiveThe aim of this study was to investigate the PD conversion rate and clinical characteristics of LRRK2 G2385R nonmanifesting carriers.MethodsAll participants were from the community‐based longitudinal cohort of Shanghai Ruijin Hospital. The G2385R carriers and noncarriers were screened by Sanger sequencing and received face‐to‐face interviews at baseline and follow‐up assessments. The Kaplan–Meier method was used to compare the conversion rate of PD. Cox regression models were used to estimate the risk of G2385R variant for PD.ResultsIn the combined cohort, 26 (7.9%) people developed PD in 329 carriers versus 9 (2.6%) in 345 noncarriers (P= 0.0016). Cox regression model confirmed that the G2385R variant was a strong risk factor for PD in a Chinese population older than 50 years (hazard ratio, 3.314; 95% confidence interval, 1.551–7.078;P= 0.002). No difference was found in clinical symptoms between carriers and noncarriers.ConclusionsWe confirmed an increased conversion of PD in leucine‐rich repeat kinase 2 G2385R carriers during a 10‐year follow‐up. © 2022 International Parkinson and Movement Disorder Society.