Genetics of Alzheimer's Disease.

Dementia and neurocognitive disorders 2020
Open on PubMed

Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are <i>APP</i>, <i>PSEN1</i>, <i>PSEN2</i>, <i>ABCA7</i>, and <i>SORL1</i>. Genome-wide association studies have found risk genes such as <i>ABCA7</i>, <i>BIN1</i>, <i>CASS4</i>, <i>CD33</i>, <i>CD2AP</i>, <i>CELF1</i>, <i>CLU</i>, <i>CR1</i>, <i>DSG2</i>, <i>EPHA1</i>, <i>FERMT2</i>, <i>HLA-DRB5-HLA-DRB1</i>, <i>INPP5D</i>, <i>MEF2C</i>, <i>MS4A6A/MS4A4E</i>, <i>NME8</i>, <i>PICALM</i>, <i>PTK2B</i>, <i>SLC24A4</i>, <i>SORL1</i>, and <i>ZCWPW1</i>. <i>ABCA7</i>, <i>SORL1</i>, <i>TREM2</i>, and <i>APOE</i> are proved to have high odds ratio (&gt;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.