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Coding mutations in SORL1 and Alzheimer disease
Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D et al.. Annals of neurology, 2015-02-01
Topic: Amyloid, tau and blood-test diagnosis
Objective Common single nucleotide polymorphisms in the SORL1 gene have been associated with late onset Alzheimer disease (LOAD), but causal variants have not been fully characterized nor has the mechanism been established. The study was undertaken to identify functional SORL1 mutations in patients with LOAD. Methods This was a family- and cohort-based genetic association study.
Key findings
- The study was undertaken to identify functional SORL1 mutations in patients with LOAD.
- Methods This was a family- and cohort-based genetic association study.
- Caribbean Hispanics with familial and sporadic LOAD and similarly aged controls were recruited from the United States and the Dominican Republic, and patients with sporadic disease of Northern European origin were recruited from Canada.
- Prioritized coding variants in SORL1 were detected by targeted resequencing and validated by genotyping in additional family members and unrelated healthy controls.
Why it matters
This family- and cohort-based genetic association study identified coding mutations in the SORL1 gene in patients with late-onset Alzheimer's disease. It is genetic research and does not test any treatment, cure, or prevention.
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Study details
- Evidence strengthModerate
How this study scored 52/100
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 (Annals of neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (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 | 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 | 1 / 5 | 2015 — 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 | 5 / 7 | Cited 191 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 14.7 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 4 / 6 | Cited 10.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 17 other studies in this library |
| Still being cited | 2 / 4 | Cited 18 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Richard P Mayeux: h-index 158 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Cambridge: institution h-index 1,973 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25382023) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 52 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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
Vardarajan, B. N., Zhang, Y., Lee, J. H., Cheng, R., Bohm, C., Ghani, M., et al. (2015). Coding mutations in SORL1 and Alzheimer disease. Annals of neurology. https://doi.org/10.1002/ana.24305
Vancouver
Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, et al. Coding mutations in SORL1 and Alzheimer disease. Annals of neurology. 2015. doi:10.1002/ana.24305. PMID: 25382023.
BibTeX
@article{vardarajan2015-25382023,
author = {Vardarajan, B. N. and Zhang, Y. and Lee, J. H. and Cheng, R. and Bohm, C. and Ghani, M. and Reitz, C. and Reyes-Dumeyer, D. and others},
title = {{Coding mutations in SORL1 and Alzheimer disease}},
journal = {Annals of neurology},
year = {2015},
doi = {10.1002/ana.24305},
pmid = {25382023},
url = {https://doi.org/10.1002/ana.24305}
}
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