阿尔茨海默病与神经肽Y2受体（NPY2R）基因启动子变异的关联。
Association of Alzheimer's Disease with Promoter Variations in NPY2R Gene.
作者信息
Karimzadeh Mohammad Reza, Najmadini Atefeh, Azhdari Sara, Zatalian Negin, Zandi Fatemeh, Salmani Neda, Saeidi Kolsoum
机构信息
Department of Medical Genetics, Afzalipour School of medicine, Kerman University of Medical Sciences, Kerman, Iran.
Department of Anatomy and Embryology, School of Medicine, Bam University of Medical Sciences, Bam, Iran.
出版信息
Rep Biochem Mol Biol. 2025 Jan;13(4):507-515. doi: 10.61186/rbmb.13.4.507.
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.
背景
阿尔茨海默病（AD）是老年人中一种广泛存在的神经退行性疾病，其特征为痴呆。AD的发展受到遗传风险因素的显著影响。
方法
在本研究中，我们调查了神经肽Y受体Y2（NPY2R）基因中的rs2234759和rs12507396多态性对AD的影响。我们招募了19名AD患者和19名健康对照者参与研究。所有参与者的DNA样本均采用扩增阻滞突变系统-聚合酶链反应（ARMS-PCR）进行基因分型。
结果
结果显示rs2234759与AD之间存在显著关联，患者与健康对照者之间该多态性的基因型和等位基因频率存在明显差异（两者P均<0.001）。然而，两组之间rs12507396多态性的基因型分布未检测到显著差异。
结论
我们的研究结果提供了令人信服的证据，证明NPY2R中的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，这种特定的多态性可能导致谷氨酸释放的突触前抑制增强。
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