Title:
APOE PROMOTER SINGLE NUCLEOTIDE POLYMORPHISM ASSOCIATED WITH ALZHEIMER'S DISEASE RISK AND USE THEREOF
Document Type and Number:
WIPO Patent Application WO/2018/212427
Kind Code:
A1
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.
Inventors:
LEE KUN HO (KR)
CHOI KYU YEONG (KR)
LEE JANG JAE (KR)
CHOI KYU YEONG (KR)
LEE JANG JAE (KR)
Application Number:
PCT/KR2018/000649
Publication Date:
November 22, 2018
Filing Date:
January 15, 2018
Export Citation:
Assignee:
UNIV CHOSUN IACF (KR)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2011085115A2 | 2011-07-14 |
Foreign References:
| US20150119264A1 | 2015-04-30 | |||
| KR101335021B1 | 2013-12-12 |
Other References:
LIMON-SZTENCEL, A. ET AL.: "The Algorithm for Alzheim er Risk Assessment Based on APOE Promoter Polymorphisms", ALZHEIMER'S RESEARCH & THERAPY, vol. 8, no. 19, 2016, pages 1 - 7, XP055559876
CHEN, Y. ET AL.: "The Effects of an APOE Promoter Polymorphism on Human Cortical Morphology during Nondemented Aging", THE JOURNAL OF NEUROSCIENCE, vol. 35, no. 4, 28 January 2015 (2015-01-28), pages 1423 - 1431, XP055559882
MA, C. ET AL.: "The TT Allele of rs405509 Synergizes with APOE epsilon4 in the Impairment of Cognition and Its Underlying Default Mode Network in Non-demented Elderly", CURRENT ALZHEIMER RESEARCH, vol. 13, no. 6, 2016, pages 708 - 717, XP055559886
BIZZARRO, A. ET AL.: "The Complex Interaction between APOE Promoter and AD: an Italian Case-control Study", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 17, 2009, pages 938 - 945, XP055563081
MA, C. ET AL.: "Is There a Significant Interaction Effect between Apolipoprotein E rs405509 T/T and epsilon4 Genotypes on Cognitive Impairment and Gray Matter Volume?", EUROPEAN JOURNAL OF NEUROLOGY, vol. 23, 2016, pages 1415 - 1425, XP055563086
See also references of EP 3626830A4
CHEN, Y. ET AL.: "The Effects of an APOE Promoter Polymorphism on Human Cortical Morphology during Nondemented Aging", THE JOURNAL OF NEUROSCIENCE, vol. 35, no. 4, 28 January 2015 (2015-01-28), pages 1423 - 1431, XP055559882
MA, C. ET AL.: "The TT Allele of rs405509 Synergizes with APOE epsilon4 in the Impairment of Cognition and Its Underlying Default Mode Network in Non-demented Elderly", CURRENT ALZHEIMER RESEARCH, vol. 13, no. 6, 2016, pages 708 - 717, XP055559886
BIZZARRO, A. ET AL.: "The Complex Interaction between APOE Promoter and AD: an Italian Case-control Study", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 17, 2009, pages 938 - 945, XP055563081
MA, C. ET AL.: "Is There a Significant Interaction Effect between Apolipoprotein E rs405509 T/T and epsilon4 Genotypes on Cognitive Impairment and Gray Matter Volume?", EUROPEAN JOURNAL OF NEUROLOGY, vol. 23, 2016, pages 1415 - 1425, XP055563086
See also references of EP 3626830A4
Attorney, Agent or Firm:
LEE, Jong Seung (KR)
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