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APOE PROMOTER SINGLE NUCLEOTIDE POLYMORPHISM ASSOCIATED WITH ALZHEIMER'S DISEASE RISK AND USE THEREOF
APOE PROMOTER SINGLE NUCLEOTIDE POLYMORPHISM ASSOCIATED WITH ALZHEIMER'S DISEASE RISK AND USE THEREOF
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机译:与阿兹海默氏病风险相关的APOE促进剂单核苷酸多态性及其用途
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摘要
The present invention relates to single nucleotide polymorphism (SNP) which can be used for Alzheimer's disease risk prediction. The SNP is rs405509 and is located on chromosome 19, 44905579 on the basis of human genome map GRCh38.p7. The present invention suggests that T allele of rs405509 plays the role of further increasing the risk of dementia of APOE E4/E4. The result of cerebral cortical thickness and hippocampal volume comparison between APOE genotypes suggests that the contraction of E4/E4 is greater than E3/E3 in Asians. The cerebral cortex of people having rs405509 T/T genotype among Caucasians having E4/E4 genotype is more severely atrophied. Therefore, the present invention enables confirmation of rs405509 T/T polymorphism along with APOE E4/E4 and thus can be used for diagnosing or risk-predicting Alzheimer's disease and/or dementia due to Alzheimer's disease.
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