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Fyn基因单核苷酸多态性与中国汉族人群散发性阿尔茨海默病的关联。

The association of single nucleotide polymorphism of the Fyn gene with sporadic Alzheimer's disease in the Chinese Han population.

作者信息

Li Jing, Zhou Hua-Dong, Deng Juan, Zhu Jie, Li Lin, Zhang Meng, Zeng Fan, Wang Yan-Jiang

机构信息

Department of Neurology and Center for Clinical Neuroscience, Daping Hospital, Third Military Medical University, Chongqing, China.

Department of Neurology and Center for Clinical Neuroscience, Daping Hospital, Third Military Medical University, Chongqing, China.

出版信息

Neurosci Lett. 2014 Jul 11;575:80-4. doi: 10.1016/j.neulet.2014.05.020. Epub 2014 May 20.

Abstract

Recent studies suggested genetic factors contribute to the pathogenesis of sporadic Alzheimer's disease (sAD). Fibroblast Yes related novel (Fyn), a tau kinase, has been reported to be associated with aberrant phosphorylated tau and neurofibrillary tangles formation. Fyn gene may be a potential candidate gene for AD. To investigate the association of the polymorphisms in Fyn gene with the susceptibility to sAD, we conducted a case-control study in a Chinese Han cohort including 200 sAD patients and 243 control participants. Four single nucleotide polymorphisms (SNPs) (rs111787668, rs1057979, rs6916861 and rs12910) within the promoter region of Fyn gene and one (rs7768046) in intron were selected and genotyped with a polymerase chain reaction-ligase detection reaction (PCR-LDR) method. Logistic regression under four genetic models was used to analyze the association between target SNPs and the risk of sAD. After adjusting for age, sex and APOE ɛ4 status, no association was revealed between these SNPs or the haplotypes containing four SNPs and the risk of sAD (P>0.05). The SNPs in the selected regions of the Fyn gene are unlikely to confer the susceptibility of sAD in the Chinese Han population. Further studies with a larger sample size and different ethnic populations are needed to reveal the role of Fyn gene in the pathogenesis of sAD.

摘要

近期研究表明,遗传因素在散发性阿尔茨海默病(sAD)的发病机制中起作用。成纤维细胞Yes相关新基因(Fyn)是一种tau激酶,据报道与异常磷酸化tau及神经原纤维缠结的形成有关。Fyn基因可能是AD的一个潜在候选基因。为了研究Fyn基因多态性与sAD易感性之间的关联,我们在中国汉族人群中进行了一项病例对照研究,包括200例sAD患者和243名对照参与者。选择了Fyn基因启动子区域内的四个单核苷酸多态性(SNP)(rs111787668、rs1057979、rs6916861和rs12910)以及一个内含子中的SNP(rs7768046),并采用聚合酶链反应-连接检测反应(PCR-LDR)方法进行基因分型。采用四种遗传模型下的逻辑回归分析目标SNP与sAD风险之间的关联。在调整年龄、性别和APOEε4状态后,未发现这些SNP或包含四个SNP的单倍型与sAD风险之间存在关联(P>0.05)。Fyn基因所选区域中的SNP不太可能赋予中国汉族人群sAD易感性。需要进行更大样本量和不同种族人群的进一步研究,以揭示Fyn基因在sAD发病机制中的作用。

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