SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians
Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M et al.. PloS one, 2013-04-02
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10(-5) were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10(-7) in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10(-9)) and rs3781834 (P = 1.04×10(-8)). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10(-5)) and rs744373 near BIN1 (P = 1.39×10(-4)). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations.
What this study adds
Evidence grade: Low
This is a pooled review of 1,008 participants. This genome-wide association study found genome-wide significant association between the SORL1 gene and late-onset Alzheimer's disease across Japanese, Korean, and Caucasian populations. It identifies a genetic risk factor but does not provide a treatment, cure, or prevention.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Miyashita, A., Koike, A., Jun, G., Wang, L. S., Takahashi, S., Matsubara, E., et al. (2013). SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PloS one. https://doi.org/10.1371/journal.pone.0058618
Vancouver
Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, et al. SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PloS one. 2013. doi:10.1371/journal.pone.0058618. PMID: 23565137.
BibTeX
@article{miyashita2013-23565137,
author = {Miyashita, A. and Koike, A. and Jun, G. and Wang, L. S. and Takahashi, S. and Matsubara, E. and Kawarabayashi, T. and Shoji, M. and others},
title = {{SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians}},
journal = {PloS one},
year = {2013},
doi = {10.1371/journal.pone.0058618},
pmid = {23565137},
url = {https://doi.org/10.1371/journal.pone.0058618}
}
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Key findings
- Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10(-9)) and rs3781834 (P = 1.04×10(-8)).
Why it matters
This genome-wide association study found genome-wide significant association between the SORL1 gene and late-onset Alzheimer's disease across Japanese, Korean, and Caucasian populations. It identifies a genetic risk factor but does not provide a treatment, cure, or prevention.
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Study details
- Participants1,008
- Evidence strengthLow
How this study scored 69/100
Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (PloS one) |
| Journal's citation record | 4 / 4 | PLoS ONE: journal h-index 594 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A meta-analysis pooling many studies (from PubMed type “Meta-Analysis”) |
| 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 | 1 / 5 | 2013 — within 20 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,008 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) |
| Randomized / blinded | 0 / 2 | A review of other studies — randomization is not credited here |
| Times cited | 5 / 7 | Cited 196 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 13.1 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 4 / 6 | Cited 13.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 16 other studies in this library |
| Still being cited | 2 / 4 | Cited 31 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Ryozo Kuwano: h-index 49 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Toronto: institution h-index 1,923 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 33 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23565137) |
| Free to read | 2 / 2 | Free to read |
| Total | 69 / 100 | — |
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