$CYP46A1$ Functional Promoter Haplotypes Decipher Genetic Susceptibility to Alzheimer's Disease

作者: Yan Li , Leung-Wing Chu , Binbin Wang , Ping-Yiu Yik , Huriletemuer

DOI: 10.3233/JAD-2010-100765

关键词:

摘要: We here demonstrate that promoter polymorphisms rs8003602 and rs3783320 of cholesterol 24S-hydroxylase (CYP46A1) were significantly associated with Alzheimer's disease (AD) in Chinese subjects. Haplotype analyses showed haplotype CG is the risk haplotype. Either single marker or haplotypic association was found only APOE "4 negative group. The then replicated an independent set case-control samples Mongolians. also investigated function haplotypes luciferase expression for TA construct exhibited higher level than construct. This finding might indicate individuals bearing are genetically more susceptible to AD compared those Further, we MYT1 could be potential transcription factor binding significant polymorphism mediated gene transcriptional activity. In general, our results show affect CYP46A1 possibly through interacting certain factors.

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