• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>CNS neuroscience & therapeutics. >The LRRK2 R 1628 P Variant Plays a Protective Role in H an C hinese Population with A lzheimer's Disease
【24h】

The LRRK2 R 1628 P Variant Plays a Protective Role in H an C hinese Population with A lzheimer's Disease

机译：LRRK2 R 1628 P变体在患有阿尔茨海默氏病的中国人群中发挥保护作用

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Summary Aims A lzheimer's disease ( AD ) and P arkinson's disease ( PD ) are the most prevalent neurodegenerative disorders that may share some overlapping etiologies. Mutations within leucine‐rich repeat kinase 2 ( LRRK2 ) have been reported to be responsible for PD , and the location of LRRK2 is within a linkage peak for sporadic AD ( SAD ). The aim of this study was to investigate two A sian‐specific LRRK 2 variants, R 1628 P and G 2385 R , with the association of H an C hinese SAD . Methods Genotyping of R 1628 P and G 2385 R was performed by PCR ‐restriction fragment length polymorphism ( RFLP ) analysis in 390 patients with SAD and 545 unrelated age‐ and sex‐matched healthy controls. Results The frequency of the C allele within R 1628 P was more than three times higher in control group (1.7%) than in patients with SAD (0.5%) ( OR 0.264; 95% CI , 0.088–0.792, P = 0.018). After stratification by the presence of one or two apolipoprotein E ε4 alleles, the protective effect becomes stronger (ε44: OR 0.028; 95% CI , 0.003–0.303, P = 0.003; ε4: OR 0.104; 95% CI , 0.013–0.818, P = 0.031). However, no difference was found in G 2385 R variant. Conclusion Our study suggested that R 1628 P variant within LRRK2 plays a protective role in H an C hinese population with SAD and such effect has an interaction with the APOE genotype.
机译：概述目的阿兹海默氏病（AD）和帕金森氏病（PD）是最普遍的神经退行性疾病，可能有一些重叠的病因。据报道，富含亮氨酸的重复激酶2（LRRK2）中的突变是造成PD的原因，LRRK2的位置在散发性AD（SAD）的连锁峰内。这项研究的目的是研究两个中国人专用的LRRK 2变体R 1628 P和G 2385 R，并与中国SAD相关联。方法采用PCR-限制性片段长度多态性（RFLP）分析法对390例SAD患者和545例年龄和性别不相关的健康对照者进行R 1628 P和G 2385 R基因分型。结果R 1628 P中的C等位基因频率在对照组（1.7％）中比在SAD患者（0.5％）中高三倍以上（OR 0.264; 95％CI，0.088-0.792，P = 0.018）。在存在一个或两个载脂蛋白Eε4等位基因分层后，保护作用变得更强（ε44：OR 0.028; 95％CI，0.003-0.303，P = 0.003;ε4：OR 0.104; 95％CI：0.013-0.818， P = 0.031）。但是，在G 2385 R变体中未发现差异。结论我们的研究表明，LRRK2中的R 1628 P变异体在具有SAD的中国汉族人群中具有保护作用，并且这种效应与APOE基因型有相互作用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号