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47/100

✓ Peer-reviewed alzhub usefulness score 47 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Plain-language summary

The proteolytic processing of amyloid precursor protein (APP) to generate the neurotoxic amyloid β (Aβ) peptide is central to the pathogenesis of Alzheimer disease (AD). The endocytic system mediates the processing of APP by controlling its access to secretases that cleave APP. A key mediator of APP localization is SorL1-a membrane protein that has been genetically linked to AD.

What this study adds

Evidence grade: Low

This study identified variants in genes regulating retromer function, a protein complex needed to retrieve SorL1, which is genetically linked to Alzheimer's disease. It is genetic work on disease risk and reports no 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

Vardarajan, B. N., Bruesegem, S. Y., Harbour, M. E., Inzelberg, R., Friedland, R., St George-Hyslop, P., et al. (2012). Identification of Alzheimer disease-associated variants in genes that regulate retromer function. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2012.04.020

Vancouver

Vardarajan BN, Bruesegem SY, Harbour ME, Inzelberg R, Friedland R, St George-Hyslop P, et al. Identification of Alzheimer disease-associated variants in genes that regulate retromer function. Neurobiology of aging. 2012. doi:10.1016/j.neurobiolaging.2012.04.020. PMID: 22673115.

BibTeX

@article{vardarajan2012-22673115,
  author  = {Vardarajan, B. N. and Bruesegem, S. Y. and Harbour, M. E. and Inzelberg, R. and Friedland, R. and St George-Hyslop, P. and Seaman, M. N. and Farrer, L. A.},
  title   = {{Identification of Alzheimer disease-associated variants in genes that regulate retromer function}},
  journal = {Neurobiology of aging},
  year    = {2012},
  doi     = {10.1016/j.neurobiolaging.2012.04.020},
  pmid    = {22673115},
  url     = {https://doi.org/10.1016/j.neurobiolaging.2012.04.020}
}

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 names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.

How to read this study

Design: our record does not state a study design, so check the methods section of the original before weighing the result.
Size: the record gives no participant count. Look for one in the original before trusting a pattern.
Effect: the record gives no effect size, so the summary above cannot say how large any difference was.

What the evidence grade means here

This page is graded low. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Low means the abstract matched neither pattern. It is the default label, and it does not mean the work is poor; many sound lab and imaging papers land here. It can add at most 5 of the 100 points in the study score, and it is a label about design, not a verdict on whether the findings are true.

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Key findings

The endocytic system mediates the processing of APP by controlling its access to secretases that cleave APP.
A key mediator of APP localization is SorL1-a membrane protein that has been genetically linked to AD.
The retromer complex is a conserved protein complex required for endosome-to-Golgi retrieval of a number of physiologically important membrane proteins including SorL1.
Based on the prior suggestion that endocytosis and retromer sorting pathways might be involved, we hypothesized that variants in other genes in this pathway might also modulate AD risk.

Why it matters

New to this subject? Start with our plain-English guide: Genetics →

Study details

Evidence strengthLow

How this study scored 47/100

Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Neurobiology of aging)
Journal's citation record	3 / 4	Neurobiology of Aging: journal h-index 263 (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	2012 — 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)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	5 / 7	Cited 163 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	10.2 citations a year over 16 year(s) since 2012
Impact for its field and year	4 / 6	Cited 9.1× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 4 other studies in this library
Still being cited	1 / 4	Cited 11 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author Lindsay A. Farrer: h-index 119 (OpenAlex, whole career)
Institution's track record	2 / 3	University of Cambridge: institution h-index 1,973 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 4 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 22673115)
Free to read	0 / 2	Behind a paywall — scores zero
Total	47 / 100	—

What each of these 20 components measures, and what this score is not →

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