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Apoe promoter single nucleotide polymorphism associated with alzheimer's disease risk and use thereof

An Alzheimer's disease, nucleic acid technology, applied in the field of single nucleotide polymorphism, can solve the problems of Alzheimer's disease risk and possible inducers are unclear

Pending Publication Date: 2019-09-17
INFOMEDITECH CO LTD
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  • Abstract
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Problems solved by technology

However, even when predicted based on APOE e4, only 20% of the degree of genetic influence in dementia can be explained
Thus, e4-mediated Alzheimer's disease risk and possible inducers remain unclear

Method used

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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
  • Apoe promoter single nucleotide polymorphism associated with alzheimer's disease risk and use thereof

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Embodiment Construction

[0029] Best Mode for Carrying Out the Invention

[0030] In the present invention, the inventors analyzed the susceptibility of different ethnic groups to APOE e4-mediated AD through a large-scale study. Thus, e4 homozygotes are more likely to develop Alzheimer's disease in East Asians compared with Caucasian and African ancestry. Furthermore, the inventors identified such ethnic differences through association studies of patients and controls with a neuropathological diagnosis of Alzheimer's disease. A handful of previous studies have reported distinct distributions of the APOE e4 allele in different populations (Farrer et al., 1997; Singh et al., 2006). The order of frequency of the e4 allele from high to low was Africa, Europe, and Asia, which is inverse to the order of e4 risk for Alzheimer's disease.

[0031] APOE e4 has been reported to promote a reduction in the thickness of the entorhinal cortex, parahippocampal cortex, and precuneus cortex (Donix et al., 2010; Foley...

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Abstract

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.

Description

technical field [0001] The present invention relates to single nucleotide polymorphisms for early diagnosis of Alzheimer's disease and prediction of Alzheimer's disease risk. Furthermore, the present invention relates to methods for early diagnosis of Alzheimer's disease and prediction of Alzheimer's disease risk using single nucleotide polymorphisms. The present invention is based on the results obtained by performing the task of studying Alzheimer's dementia-specific brain damage and constructing a brain map based on MRI, which has been approved by the Ministry of Science, Information and Communication Technology and Future Planning of Korea's Brain Science Source Technology Support for development projects. Background technique [0002] Alzheimer's disease is a progressive neurodegenerative disease characterized by cognitive decline and senile plaques in the brain. Alzheimer's disease is the most common cause of dementia in the elderly, accounting for 60% to 80% of deme...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
CPCC12Q1/68C12Q1/6883C12Q2600/156A61B5/0042C12Q1/6827C12Q1/6844G01N33/6896G01N2800/2821
Inventor 李建昊崔圭永李长在
Owner INFOMEDITECH CO LTD
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