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Research Article

Promoter Methylation and Gene Expression of Pin1 Associated with the Risk of Alzheimer’s Disease in Southern Chinese

[ Vol. 17 , Issue. 13 ]

Author(s):

Suk L. Ma*, Nelson L.S. Tang and Linda C. Wa Lam   Pages 1232 - 1237 ( 6 )

Abstract:


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.

Keywords:

Genetics, Pin1, gene expression, methylation, Alzheimer’s disease, cognitive decline.

Affiliation:

Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong



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