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66/100

✓ Peer-reviewed alzhub usefulness score 66 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

The authors sought to identify new susceptibility loci for Alzheimer's disease through a staged association study and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium in a companion paper. Through genome-wide association datasets and meta-analyses, they provided compelling evidence that ABCA7 and the MS4A gene cluster are new Alzheimer's disease susceptibility loci. They also found independent evidence for association for three loci reported by the ADGC, which showed genome-wide significance when combined: CD2AP, CD33, and EPHA1.

Key findings

Three SNPs at two loci replicated and showed evidence for association in a further sample.
We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)).

Why it matters

Reports common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP associated with Alzheimer's disease. These associations nominate genes for further work and are not treatments.

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Study details

Evidence strengthLow

How this study scored 66/100

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	2011 — 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 2,001 times (OpenAlex, 2026-10-10)
Citations per year	5 / 5	117.7 citations a year over 17 year(s) since 2011
Impact for its field and year	6 / 6	Cited 105.0× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	5 / 6	Cited by 155 other studies in this library
Still being cited	4 / 4	Cited 268 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author Neill R. Graff‐Radford: h-index 131 (OpenAlex, whole career)
Institution's track record	3 / 3	National Institutes of Health: institution h-index 2,723 (OpenAlex)
Multi-centre collaboration	3 / 3	OpenAlex lists 61 institution(s) in 9 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 21460840)
Free to read	2 / 2	Free to read
Total	66 / 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

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APA 7th

the Alzheimer's Disease Neuroimaging Initiative, Hollingworth, P., Harold, D. H., Sims, R., Gerrish, A., Lambert, J., et al. (2011). Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics. https://doi.org/10.1038/ng.803

Vancouver

the Alzheimer's Disease Neuroimaging Initiative, Hollingworth P, Harold DH, Sims R, Gerrish A, Lambert J, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics. 2011. doi:10.1038/ng.803. PMID: 21460840.

BibTeX

@article{study2011-21460840,
  author  = {{the Alzheimer's Disease Neuroimaging Initiative} and Hollingworth, Paul and Harold, Denise H. and Sims, Rebecca and Gerrish, Amy and Lambert, Jean‐Charles and Carrasquillo, Minerva M. and Abraham, Richard and others},
  title   = {{Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease}},
  journal = {Nature Genetics},
  year    = {2011},
  doi     = {10.1038/ng.803},
  pmid    = {21460840},
  url     = {https://doi.org/10.1038/ng.803}
}

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