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Genetics of Alzheimer's Disease
Kim JH.. Dementia and neurocognitive disorders, 2018-12-01
Topic: Amyloid, tau and blood-test diagnosis
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.
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APA 7th
Kim, J. H. (2018). Genetics of Alzheimer's Disease. Dementia and neurocognitive disorders. https://doi.org/10.12779/dnd.2018.17.4.131
Vancouver
Kim JH. Genetics of Alzheimer's Disease. Dementia and neurocognitive disorders. 2018. doi:10.12779/dnd.2018.17.4.131. PMID: 30906402.
BibTeX
@article{kim2018-30906402,
author = {Kim, J. H.},
title = {{Genetics of Alzheimer's Disease}},
journal = {Dementia and neurocognitive disorders},
year = {2018},
doi = {10.12779/dnd.2018.17.4.131},
pmid = {30906402},
url = {https://doi.org/10.12779/dnd.2018.17.4.131}
}
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Key findings
- 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.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 41/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 24 of the 58 points we could judge it on, which is 41 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Dementia and neurocognitive disorders) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2018 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30906402) |
| Free to read | 2 / 2 | Free to read |
| Points | 24 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 24 of the 58 points we could judge it on is 41 out of 100. |
| Total | 41 / 100 | — |
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