摘要
背景:Pin1是一种丙基顺反异构酶,它与阿尔茨海默氏病(AD)的年龄和其他病理特征有关。 DNA甲基化是基因调控机制之一,可能会影响基因表达。 目的:本研究旨在探讨中国人群中Pin1基因甲基化与基因表达之间的相关性及其对AD风险的影响。 方法:本研究招募了80名AD患者和180名正常对照者,并对其认知功能进行了评估。 Pin1基因的表达和甲基化分别通过实时RT-PCR和熔解曲线分析-甲基化测定(MCA-Meth)进行定量。 结果:我们的发现表明Pin1的甲基化与基因表达之间呈正相关(p = 0.001),而Pin1甲基化的增加易患AD(p <0.001)。 Pin1 SNP rs2287839的CG基因型与Pin1的较高基因表达相关(p = 0.036),并且该作用仅在正常对照中突出,因为AD患者已在Pin1启动子处甲基化。此外,Pin1的甲基化与更好的认知能力有关(p = 0.018)。结论:我们的结果进一步支持了Pin1参与AD,而Pin1的升高水平可能是AD的保护因素。
关键词: 遗传学,Pin1,基因表达,甲基化,阿尔茨海默氏病,认知能力下降。
Current Alzheimer Research
Title:Promoter Methylation and Gene Expression of Pin1 Associated with the Risk of Alzheimer’s Disease in Southern Chinese
Volume: 17 Issue: 13
关键词: 遗传学,Pin1,基因表达,甲基化,阿尔茨海默氏病,认知能力下降。
摘要:
Background: Pin1 is a propyl cis-trans isomerase and it has been associated with age-atonset of Alzheimer’s disease (AD) and other pathological characteristics of AD. DNA methylation is one of the gene regulation mechanisms and it might affect the gene expression.
Objective: This study was aimed to examine the correlation between DNA methylation and gene expression of Pin1 and its effect on the risk of AD in a Chinese population.
Methods: 80 AD patients and 180 normal controls were recruited in this study and their cognitive functions were assessed. Pin1 gene expression and methylation were quantified by real-time RT-PCR and Melting Curve Analysis-Methylation assay (MCA-Meth), respectively.
Results: Our finding revealed a positive correlation between methylation and gene expression of Pin1 (p=0.001) and increased Pin1 methylation was predisposed to the risk of AD (p<0.001). CG genotype of Pin1 SNP rs2287839 was associated with higher gene expression of Pin1 (p=0.036) and the effect was only prominent in normal controls as AD patients were already methylated at Pin1 promoter. Furthermore, methylation of Pin1 was associated with better performance in cognition (p=0.018).
Conclusion: Our result further supported the involvement of Pin1 in AD and the increased level of Pin1 might be a protective factor for AD.
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Cite this article as:
Promoter Methylation and Gene Expression of Pin1 Associated with the Risk of Alzheimer’s Disease in Southern Chinese, Current Alzheimer Research 2020; 17 (13) . https://dx.doi.org/10.2174/1567205018666210208163946
DOI https://dx.doi.org/10.2174/1567205018666210208163946 |
Print ISSN 1567-2050 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5828 |
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