首页> 外国专利> 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

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

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.
机译:本发明涉及可以用于阿尔茨海默氏病风险预测的单核苷酸多态性(SNP)。 SNP是rs405509,根据人类基因组图谱GRCh38.p7位于19号染色体44905579上。本发明提示rs405509的T等位基因起进一步增加APOE E4 / E4痴呆风险的作用。 APOE基因型之间的大脑皮层厚度和海马体积比较的结果表明,亚洲人中E4 / E4的收缩大于E3 / E3。具有E4 / E4基因型的高加索人中具有rs405509 T / T基因型的人的大脑皮层严重萎缩。因此,本发明使得能够确认rs405509 T / T多态性与APOE E4 / E4一起,因此可以用于诊断或风险预测由于阿尔茨海默氏病引起的阿尔茨海默氏病和/或痴呆。

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