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  • 标题:Genetics of Alzheimer's Disease
  • 作者:Kim, Jong Hun
  • 期刊名称:Dementia and Neurocognitive Disorders
  • 印刷版ISSN:1738-1495
  • 出版年度:2018
  • 卷号:17
  • 期号:4
  • 页码:131-136
  • DOI:10.12779/dnd.2018.17.4.131
  • 语种:English
  • 出版社:KoreaMed Synapse
  • 摘要:

    Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP , PSEN1 , PSEN2 , ABCA7 , and SORL1 . Genome-wide association studies have found risk genes such as ABCA7 , BIN1 , CASS4 , CD33 , CD2AP , CELF1 , CLU , CR1 , DSG2 , EPHA1 , FERMT2 , HLA-DRB5-HLA-DRB1 , INPP5D , MEF2C , MS4A6A/MS4A4E , NME8 , PICALM , PTK2B , SLC24A4 , SORL1 , and ZCWPW1 . ABCA7 , SORL1 , TREM2 , and APOE are proved to have high odds ratio (>2) in risk of AD using next generation sequencing studies. Thanks to the promising genetic techniques such as CRISPR-CAS9 and single-cell RNA sequencing opened a new era in genetics. CRISPR-CAS9 can directly link genetic knowledge to future treatment. Single-cell RNA sequencing are providing useful information on cell biology and pathogenesis of diverse diseases.

  • 关键词:Alzheimer's Disease; Genetics; CRISPR-Cas Systems; Single-Cell Analysis
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