与中国南部阿尔茨海默氏病风险相关的Pin1启动子甲基化和基因表达

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.

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