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Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese
Cuicui Liu, Lin Cong, Min Zhu, Yongxiang Wang, Shi Tang, Xiaojuan Han, Qinghua Zhang, Na Tian et al.. Current Alzheimer research, 2022
Topic: Genetics and APOE
We identified 7 functional variants in APP/PSENs in 8 patients, including 1 APP mutation (p. Val715Met), 3 PSEN1 mutations (p. Phe177Ser; p. Arg377Met; p. Ile416Thr), and 3 PSEN2 mutations (p. Glu24Lys; p. Gly34Ser; p. Met239Thr). Of the remaining 26 EOAD cases without mutations in APP/PSENs, the proportion of carrying rare variants of genes involved in Aβ and APP metabolism was significantly higher than that of controls (84.6% vs. 73.1%, P=0.042). Thirty-one risk genes with 47 variants were identified in 22 patients. However, in 26 normal subjects, only 20 risk genes with 29 variants were identified in 19 subjects. Our findings demonstrate the role of APP/PSENs mutations in EOAD, identifying a new PSEN2 missense mutation, and further offer valuable insights into the potential genetic mechanisms of EOAD without APP/PSENs mutations among Han Chinese.
Key findings
- We identified 7 functional variants in APP/PSENs in 8 patients, including 1 APP mutation (p.
- Of the remaining 26 EOAD cases without mutations in APP/PSENs, the proportion of carrying rare variants of genes involved in Aβ and APP metabolism was significantly higher than that of controls (84.6% vs. 73.1%, P=0.042).
- Thirty-one risk genes with 47 variants were identified in 22 patients.
- However, in 26 normal subjects, only 20 risk genes with 29 variants were identified in 19 subjects.
- Our findings demonstrate the role of APP/PSENs mutations in EOAD, identifying a new PSEN2 missense mutation, and further offer valuable insights into the potential genetic mechanisms of EOAD without APP/PSENs mutations among Han Chinese.
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Study details
- Participants34
- Effect size84.6%; 73.1%
- Evidence strengthLow
How this study scored 52/100
Published in a peer-reviewed journal. Scored zero for study design 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, multi-centre collaboration and free to read, so those were left out: it earned 29 of the 56 points we could judge it on, which is 52 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Current Alzheimer research) |
| 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 | 3 / 5 | 2022 — within 6 year(s) of the newest study here |
| Sample size | 1 / 4 | 34 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| 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 36306459) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 29 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 29 of the 56 points we could judge it on is 52 out of 100. |
| Total | 52 / 100 | — |
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Liu, C., Cong, L., Zhu, M., Wang, Y., Tang, S., Han, X., et al. (2022). Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese. Current Alzheimer research. https://doi.org/10.2174/1567205020666221028112915
Vancouver
Liu C, Cong L, Zhu M, Wang Y, Tang S, Han X, et al. Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese. Current Alzheimer research. 2022. doi:10.2174/1567205020666221028112915. PMID: 36306459.
BibTeX
@article{liu2022-36306459,
author = {Liu, Cuicui and Cong, Lin and Zhu, Min and Wang, Yongxiang and Tang, Shi and Han, Xiaojuan and Zhang, Qinghua and Tian, Na and others},
title = {{Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese}},
journal = {Current Alzheimer research},
year = {2022},
doi = {10.2174/1567205020666221028112915},
pmid = {36306459},
url = {https://doi.org/10.2174/1567205020666221028112915}
}
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