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51/100

✓ Peer-reviewed alzhub usefulness score 51 out of 100. Genetics

Topic: Amyloid, tau and blood-test diagnosis

Many elderly individuals remain dementia-free throughout their life. However, some of these individuals exhibit Alzheimer disease neuropathology on autopsy, evidenced by neurofibrillary tangles (NFTs) in AD-specific brain regions. We conducted a genome-wide association study to identify genetic mechanisms that distinguish non-demented elderly with a heavy NFT burden from those with a low NFT burden. The study included 299 non-demented subjects with autopsy (185 subjects with low and 114 with high NFT levels). Both a genotype test, using logistic regression, and an allele test provided consistent evidence that variants in the RELN gene are associated with neuropathology in the context of cognitive health. Immunohistochemical data for reelin expression in AD-related brain regions added support for these findings. Reelin signaling pathways modulate phosphorylation of tau, the major component of NFTs, either directly or through β-amyloid pathways that influence tau phosphorylation. Our findings suggest that up-regulation of reelin may be a compensatory response to tau-related or beta-amyloid stress associated with AD even prior to the onset of dementia.

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APA 7th

Kramer, P. L., Xu, H., Woltjer, R. L., Westaway, S. K., Clark, D., Erten-Lyons, D., et al. (2011). Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2010.01.010

Vancouver

Kramer PL, Xu H, Woltjer RL, Westaway SK, Clark D, Erten-Lyons D, et al. Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. Neurobiology of aging. 2011. doi:10.1016/j.neurobiolaging.2010.01.010. PMID: 20452100.

BibTeX

@article{kramer2011-20452100,
  author  = {Kramer, P. L. and Xu, H. and Woltjer, R. L. and Westaway, S. K. and Clark, D. and Erten-Lyons, D. and Kaye, J. A. and Welsh-Bohmer, K. A. and others},
  title   = {{Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study}},
  journal = {Neurobiology of aging},
  year    = {2011},
  doi     = {10.1016/j.neurobiolaging.2010.01.010},
  pmid    = {20452100},
  url     = {https://doi.org/10.1016/j.neurobiolaging.2010.01.010}
}

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Key findings

Both a genotype test, using logistic regression, and an allele test provided consistent evidence that variants in the RELN gene are associated with neuropathology in the context of cognitive health.
Immunohistochemical data for reelin expression in AD-related brain regions added support for these findings.
Our findings suggest that up-regulation of reelin may be a compensatory response to tau-related or beta-amyloid stress associated with AD even prior to the onset of dementia.

Why it matters

In 299 non-demented elderly people with autopsy, variants in the RELN gene were associated with having many neurofibrillary tangles despite staying dementia-free. The authors suggest reelin may be a compensatory response, but this is a genetic association study and does not test treatment.

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Study details

Participants299
Evidence strengthLow

How this study scored 51/100

Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / 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	2011 — within 20 year(s) of the newest study here
Sample size	2 / 4	299 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)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	5 / 7	Cited 109 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	6.4 citations a year over 17 year(s) since 2011
Impact for its field and year	3 / 6	Cited 7.4× 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	2 / 4	Cited 15 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Jürg Ott: h-index 92 (OpenAlex, whole career)
Institution's track record	2 / 3	Johns Hopkins University: institution h-index 2,306 (OpenAlex)
Multi-centre collaboration	3 / 3	OpenAlex lists 15 institution(s) in 2 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 20452100)
Free to read	0 / 2	Behind a paywall — scores zero
Total	51 / 100	—

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