title: Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.
abstract: DNA methylation is an important epigenetic mechanism for gene regulation and it is well established there is association between aging and DNA methylation. Alzheimer's disease (AD) is the most common neurodegenerative disease, characterized by amyloid plaque deposition and formation of neurofibrillary tangles. In this study, we examined the correlation between DNA methylation and gene expression of seven genes including CTSB, CTSD, DDT, TSC1, NRD1, UQCRC1 and NDUFA6 and its effect on the risk of AD in a Chinese population. Our finding showed significantly increased gene expression of these 7 genes in AD patients (2.7-fold-8.6-fold). UQCRC1 was highly methylated in AD patients and there was strong positive correlation between gene expression level and methylation status of UQCRC1 (p < 0.001). Further analysis showed the methylation status of UQCRC1 was significantly associated with gene expression of NRD1, DDT, CTSB and CTSD, suggested the regulatory mechanism on these 4 genes by UQCRC1. Our study further suggested the role of methylation in gene regulation and the role in AD.
authors.affiliation: Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, China. Electronic address: suklingma@cuhk.edu.hk.
authors.forename: Suk Ling
authors.initials: SL
authors.lastname: Ma
authors.affiliation: Functional Genomics and Biostatistical Computing Laboratory, Shenzhen Research Institute, The Chinese University of Hong Kong, China; Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, China; Laboratory of Genetics of Disease Susceptibility, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, China.
authors.forename: Nelson Leung Sang
authors.initials: NL
authors.lastname: Tang
authors.affiliation: Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, China.
authors.forename: Linda Chiu Wa
authors.initials: LC
authors.lastname: Lam
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People; D016009:Chi-Square Distribution; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; C582875:UQCC1 protein, human
keywords: Alzheimer's disease; Gene expression; Genetics; Methylation