阿尔茨海默病与NPY2R基因启动子变异的关系

IF 1.2 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Mohammad Reza Karimzadeh, Atefeh Najmadini, Sara Azhdari, Negin Zatalian, Fatemeh Zandi, Neda Salmani, Kolsoum Saeidi
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引用次数: 0

摘要

背景:阿尔茨海默病(AD)是一种在老年人中广泛存在的神经退行性疾病,以痴呆为特征。AD的发展受遗传危险因素的显著影响。方法:在本研究中,我们研究了神经肽Y受体Y2 (NPY2R)基因rs2234759和rs12507396多态性对AD的影响。19名AD患者和19名健康对照者被纳入我们的研究。所有参与者的DNA样本采用扩增难解突变系统-聚合酶链反应(ARMS-PCR)进行基因分型。结果:结果显示rs2234759与AD之间存在显著的相关性,患者与健康对照之间该多态性的基因型和等位基因频率存在显著差异(P< 0.001)。而rs12507396多态性基因型分布在两组间无显著差异。结论:我们的研究结果提供了令人信服的证据,证明NPY2R中rs2234759多态性与阿尔茨海默病之间存在关联。鉴于NPY2R在脑组织中的重要作用,这种特殊的多态性可能导致谷氨酸释放的突触前抑制增强。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association of Alzheimer's Disease with Promoter Variations in NPY2R Gene.

Background: Alzheimer's disease (AD) is a widespread neurodegenerative disorder among the elderly, characterized by dementia. The development of AD is significantly influenced by genetic risk factors.

Methods: in this study, we have investigated the impact of rs2234759 and rs12507396 polymorphisms in the neuropeptide Y receptor Y2 (NPY2R) gene on AD. Nineteen AD patients and nineteen healthy controls were enlisted in our research. and the DNA samples of all participants were genotyped using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).

Results: The results revealed a noteworthy association between rs2234759 and AD, with a noticeable difference observed in the frequency of genotypes and alleles of this polymorphism between patients and healthy controls (P< 0.001 for both). However, no significant difference was detected in the genotype distribution concerning the rs12507396 polymorphism between the two groups.

Conclusions: Our findings provide compelling evidence of an association between the rs2234759 polymorphism in NPY2R and Alzheimer's disease. Given the significant role of NPY2R in brain tissue, this particular polymorphism may result in strengthened presynaptic inhibition of glutamate release.

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来源期刊
Reports of Biochemistry and Molecular Biology
Reports of Biochemistry and Molecular Biology BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
2.80
自引率
23.50%
发文量
60
审稿时长
10 weeks
期刊介绍: The Reports of Biochemistry & Molecular Biology (RBMB) is the official journal of the Varastegan Institute for Medical Sciences and is dedicated to furthering international exchange of medical and biomedical science experience and opinion and a platform for worldwide dissemination. The RBMB is a medical journal that gives special emphasis to biochemical research and molecular biology studies. The Journal invites original and review articles, short communications, reports on experiments and clinical cases, and case reports containing new insights into any aspect of biochemistry and molecular biology that are not published or being considered for publication elsewhere. Publications are accepted in the form of reports of original research, brief communications, case reports, structured reviews, editorials, commentaries, views and perspectives, letters to authors, book reviews, resources, news, and event agenda.
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