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Classification and deep-learning-based prediction of Alzheimer disease subtypes by using genomic data
Shigemizu D, Akiyama S, Suganuma M, Furutani M, Yamakawa A, Nakano Y, Ozaki K, Niida S.. Translational psychiatry, 2023-06-29
Topic: Amyloid, tau and blood-test diagnosis
Late-onset Alzheimer's disease (LOAD) is the most common multifactorial neurodegenerative disease among elderly people. LOAD is heterogeneous, and the symptoms vary among patients. Genome-wide association studies (GWAS) have identified genetic risk factors for LOAD but not for LOAD subtypes. Here, we examined the genetic architecture of LOAD based on Japanese GWAS data from 1947 patients and 2192 cognitively normal controls in a discovery cohort and 847 patients and 2298 controls in an independent validation cohort. Two distinct groups of LOAD patients were identified. One was characterized by major risk genes for developing LOAD (APOC1 and APOC1P1) and immune-related genes (RELB and CBLC). The other was characterized by genes associated with kidney disorders (AXDND1, FBP1, and MIR2278). Subsequent analysis of albumin and hemoglobin values from routine blood test results suggested that impaired kidney function could lead to LOAD pathogenesis. We developed a prediction model for LOAD subtypes using a deep neural network, which achieved an accuracy of 0.694 (2870/4137) in the discovery cohort and 0.687 (2162/3145) in the validation cohort. These findings provide new insights into the pathogenic mechanisms of LOAD.
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APA 7th
Shigemizu, D., Akiyama, S., Suganuma, M., Furutani, M., Yamakawa, A., Nakano, Y., et al. (2023). Classification and deep-learning-based prediction of Alzheimer disease subtypes by using genomic data. Translational psychiatry. https://doi.org/10.1038/s41398-023-02531-1
Vancouver
Shigemizu D, Akiyama S, Suganuma M, Furutani M, Yamakawa A, Nakano Y, et al. Classification and deep-learning-based prediction of Alzheimer disease subtypes by using genomic data. Translational psychiatry. 2023. doi:10.1038/s41398-023-02531-1. PMID: 37386009.
BibTeX
@article{shigemizu2023-37386009,
author = {Shigemizu, D. and Akiyama, S. and Suganuma, M. and Furutani, M. and Yamakawa, A. and Nakano, Y. and Ozaki, K. and Niida, S.},
title = {{Classification and deep-learning-based prediction of Alzheimer disease subtypes by using genomic data}},
journal = {Translational psychiatry},
year = {2023},
doi = {10.1038/s41398-023-02531-1},
pmid = {37386009},
url = {https://doi.org/10.1038/s41398-023-02531-1}
}
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Key findings
- The other was characterized by genes associated with kidney disorders (AXDND1, FBP1, and MIR2278).
- Subsequent analysis of albumin and hemoglobin values from routine blood test results suggested that impaired kidney function could lead to LOAD pathogenesis.
- These findings provide new insights into the pathogenic mechanisms of LOAD.
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Study details
- Participants1,947
- Evidence strengthModerate
How this study scored 57/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported 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 33 of the 58 points we could judge it on, which is 57 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Translational psychiatry) |
| 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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,947 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| 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 37386009) |
| Free to read | 2 / 2 | Free to read |
| Points | 33 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 33 of the 58 points we could judge it on is 57 out of 100. |
| Total | 57 / 100 | — |
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