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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT et al.. Nature genetics, 2007-01-14
Topic: Brain proteins, microglia and lab models
The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Rogaeva, E., Meng, Y., Lee, J. H., Gu, Y., Kawarai, T., Zou, F., et al. (2007). The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature genetics. https://doi.org/10.1038/ng1943
Vancouver
Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature genetics. 2007. doi:10.1038/ng1943. PMID: 17220890.
BibTeX
@article{rogaeva2007-17220890,
author = {Rogaeva, E. and Meng, Y. and Lee, J. H. and Gu, Y. and Kawarai, T. and Zou, F. and Katayama, T. and Baldwin, C. T. and others},
title = {{The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease}},
journal = {Nature genetics},
year = {2007},
doi = {10.1038/ng1943},
pmid = {17220890},
url = {https://doi.org/10.1038/ng1943}
}
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Key findings
- We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease.
- These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1.
- We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into Abeta-generating compartments.
- These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
Why it matters
This 2007 study reported that inherited variants in the SORL1 gene, found in non-coding (intronic) parts of the gene, are associated with late-onset Alzheimer's disease, and that they "may regulate" how much SORL1 is made. It also showed that SORL1 steers the amyloid precursor protein into recycling pathways, and that when SORL1 is low the protein is sorted into compartments that produce amyloid-beta. The authors say this "suggest[s]" that changes in SORL1 are involved in causing Alzheimer's; our record gives no sample size or effect size, and the study offers no test or treatment.
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Study details
- Evidence strengthLow
How this study scored 61/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Nature genetics) |
| Journal's citation record | 4 / 4 | Nature Genetics: journal h-index 776 (OpenAlex, 2026-10-29) |
| 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 | 1 / 5 | 2007 — within 20 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 / 7 | Cited 1,169 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 55.7 citations a year over 21 year(s) since 2007 |
| Impact for its field and year | 6 / 6 | Cited 63.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 85 other studies in this library |
| Still being cited | 3 / 4 | Cited 109 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Peter St George‐Hyslop: h-index 121 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Toronto: institution h-index 1,923 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 17 institution(s) in 7 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 17220890) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 61 / 100 | — |
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