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确定Rho激酶1基因多态性与阿尔茨海默病风险的关联:一项多中心试点研究。

Determining association of rho kinase 1 gene polymorphisms with risk of Alzheimer's disease: a multicenter pilot study.

作者信息

Gao Ying, Li Xia, Liu Xiao-Hong, Zhao Qian-Hua, Che Xiang-Qian, Guo Qi-Hao, Ren Ru-Jing, Wang Gang

机构信息

Department of Neurology & Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

Alzheimer's Disease and Related Disorders Center, Department of Geriatric Psychiatry, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.

出版信息

Ann Transl Med. 2018 Nov;6(22):434. doi: 10.21037/atm.2018.05.51.

Abstract

BACKGROUND

In addition to the increasing evidence for a molecular mechanism of rho kinase 1 () in Alzheimer's disease (AD), there are several published studies regarding the relationship between gene polymorphisms and neurological diseases. However, it is unknown whether there is an association between the polymorphisms of and AD. We sought to identify the potential association between gene polymorphisms and AD in the Chinese Han population.

METHODS

A total of 295 patients with AD and 206 healthy controls from multiple centers were enrolled in this study. Three single-nucleotide polymorphisms (SNPs) (rs35996865, rs11873284, and rs2127958) in gene were analyzed using Sanger sequencing.

RESULTS

We did not find any significant differences between AD and control groups with regards to the frequency of these three polymorphisms. Further, the three SNP genotype frequencies and allele frequencies did not show significant differences between patients of AD and controls in -stratified subjects (P>0.01). Additionally, the three SNPs did not show significant differences even when adopting a four-inheritance model by logistic regression.

CONCLUSIONS

This is the first multicenter pilot study to evaluate the contribution of genetic variance to AD risk. Our data demonstrated that the gene may not influence the risk of AD by interacting with among Chinese Han people.

摘要

背景

除了越来越多的证据表明Rho激酶1(ROCK1)在阿尔茨海默病(AD)中存在分子机制外,还有几项关于ROCK1基因多态性与神经疾病之间关系的已发表研究。然而,ROCK1基因多态性与AD之间是否存在关联尚不清楚。我们试图在中国汉族人群中确定ROCK1基因多态性与AD之间的潜在关联。

方法

本研究共纳入来自多个中心的295例AD患者和206例健康对照。使用桑格测序法分析ROCK1基因中的三个单核苷酸多态性(SNP)(rs35996865、rs11873284和rs2127958)。

结果

我们发现这三种ROCK1多态性的频率在AD组和对照组之间没有任何显著差异。此外,在按性别分层的受试者中,这三个SNP的基因型频率和等位基因频率在AD患者和对照组之间也没有显示出显著差异(P>0.01)。此外,即使采用逻辑回归的四遗传模型,这三个SNP也没有显示出显著差异。

结论

这是第一项评估ROCK1基因变异对AD风险影响的多中心初步研究。我们的数据表明,在中国汉族人群中,ROCK1基因可能不会通过与性别相互作用来影响AD的风险。

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