Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk
Shigemizu D, Mitsumori R, Akiyama S, Miyashita A, Morizono T, Higaki S, Asanomi Y, Hara N et al.. Translational psychiatry, 2021-03-03
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) has no cure, but early detection and risk prediction could allow earlier intervention. Genetic risk factors may differ between ethnic populations. To discover novel susceptibility loci of AD in the Japanese population, we conducted a genome-wide association study (GWAS) with 3962 AD cases and 4074 controls. Out of 4,852,957 genetic markers that passed stringent quality control filters, 134 in nine loci, including APOE and SORL1, were convincingly associated with AD. Lead SNPs located in seven novel loci were genotyped in an independent Japanese AD case-control cohort. The novel locus FAM47E reached genome-wide significance in a meta-analysis of association results. This is the first report associating the FAM47E locus with AD in the Japanese population. A trans-ethnic meta-analysis combining the results of the Japanese data sets with summary statistics from stage 1 data of the International Genomics of Alzheimer's Project identified an additional novel susceptibility locus in OR2B2. Our data highlight the importance of performing GWAS in non-European populations.
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APA 7th
Shigemizu, D., Mitsumori, R., Akiyama, S., Miyashita, A., Morizono, T., Higaki, S., et al. (2021). Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk. Translational psychiatry. https://doi.org/10.1038/s41398-021-01272-3
Vancouver
Shigemizu D, Mitsumori R, Akiyama S, Miyashita A, Morizono T, Higaki S, et al. Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk. Translational psychiatry. 2021. doi:10.1038/s41398-021-01272-3. PMID: 33654092.
BibTeX
@article{shigemizu2021-33654092,
author = {Shigemizu, D. and Mitsumori, R. and Akiyama, S. and Miyashita, A. and Morizono, T. and Higaki, S. and Asanomi, Y. and Hara, N. and others},
title = {{Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk}},
journal = {Translational psychiatry},
year = {2021},
doi = {10.1038/s41398-021-01272-3},
pmid = {33654092},
url = {https://doi.org/10.1038/s41398-021-01272-3}
}
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Key findings
- Out of 4,852,957 genetic markers that passed stringent quality control filters, 134 in nine loci, including APOE and SORL1, were convincingly associated with AD.
- The novel locus FAM47E reached genome-wide significance in a meta-analysis of association results.
- A trans-ethnic meta-analysis combining the results of the Japanese data sets with summary statistics from stage 1 data of the International Genomics of Alzheimer's Project identified an additional novel susceptibility locus in OR2B2.
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Study details
- Study designmeta-analysis
- Evidence strengthHigh
How this study scored 71/100
Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people 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 41 of the 58 points we could judge it on, which is 71 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 | 12 / 12 | A meta-analysis pooling many studies |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2021 — within 6 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 | A review of other studies — randomisation is not credited here |
| 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 33654092) |
| Free to read | 2 / 2 | Free to read |
| Points | 41 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 41 of the 58 points we could judge it on is 71 out of 100. |
| Total | 71 / 100 | — |
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