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Single nucleotide polymorphisms of the APOE promoter associated with the risk of Alzheimer's disease and uses thereof

机译:与阿尔茨海默氏病风险相关的APOE启动子的单核苷酸多态性及其用途

摘要

The present invention relates to single nucleotide polymorphisms (SNPs) that can be used to predict the risk of Alzheimer's disease. The SNP is rs405509, and the human genome map GRCh38. Located on chromosome 19, 4490579, based on p7. The present invention suggests that the rs405509 T allele plays a role in further increasing the risk of APOE E4 / E4 dementia. The results of the comparison of cerebral cortical thickness and hippocampal volume between APOE genotypes suggest that E4 / E4 contractions are greater than E3 / E3 in Asians. The cerebral cortex of Caucasians with the E4 / E4 genotype and those with the rs405509 T / T genotype is more severely atrophied. Accordingly, the present invention allows the confirmation of the rs405509 T / T polymorphism with APOE E4 / E4, thereby being used to diagnose or predict Alzheimer's disease and / or dementia due to Alzheimer's disease. You can
机译:本发明涉及可用于预测阿尔茨海默氏病风险的单核苷酸多态性(SNP)。 SNP是rs405509,人类基因组图谱是GRCh38。基于p7位于19号染色体上4490579。本发明表明rs405509T等位基因在进一步增加APOE E4 / E4痴呆的风险中起作用。 APOE基因型之间的大脑皮层厚度和海马体积的比较结果表明,亚洲人的E4 / E4收缩大于E3 / E3。具有E4 / E4基因型的高加索人和具有rs405509 T / T基因型的高加索人的大脑皮层严重萎缩。因此,本发明允许用APOE E4 / E4确认rs405509 T / T多态性,从而用于诊断或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。您可以

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