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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Denise H. Harold, Richard Abraham, Paul Hollingworth, Rebecca Sims, Amy Gerrish, Marian L. Hamshere, Jaspreet Singh Pahwa, Valentina Moskvina et al.. Nature Genetics, 2009-09-06
Topic: Amyloid, tau and blood-test diagnosis
This study undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease involving over 16,000 individuals. In addition to replicating the established association with the APOE locus, the study identified and replicated genome-wide significant associations with SNPs at two novel loci: the CLU gene and 5' to the PICALM gene. These results provided compelling evidence for association with Alzheimer's disease in the combined dataset.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Harold, D. H., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., et al. (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics. https://doi.org/10.1038/ng.440
Vancouver
Harold DH, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics. 2009. doi:10.1038/ng.440. PMID: 19734902.
BibTeX
@article{harold2009-19734902,
author = {Harold, Denise H. and Abraham, Richard and Hollingworth, Paul and Sims, Rebecca and Gerrish, Amy and Hamshere, Marian L. and Pahwa, Jaspreet Singh and Moskvina, Valentina and others},
title = {{Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease}},
journal = {Nature Genetics},
year = {2009},
doi = {10.1038/ng.440},
pmid = {19734902},
url = {https://doi.org/10.1038/ng.440}
}
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Key findings
- Replicated the established association with the apolipoprotein E (APOE) locus (most significant SNP, rs2075650, P = 1.8 x 10(-157))
- Observed genome-wide significant association at the CLU (also known as APOJ) gene (rs11136000, P = 1.4 x 10(-9))
- Observed genome-wide significant association 5' to the PICALM gene (rs3851179, P = 1.9 x 10(-8))
- Produced compelling evidence for association with Alzheimer's disease in the combined dataset for rs11136000 (P = 8.5 x 10(-10), odds ratio = 0.86) and rs3851179 (P = 1.3 x 10(-9), odds ratio = 0.86)
Why it matters
A genome-wide association study reporting variants at CLU and PICALM associated with Alzheimer's disease. An association marks genes worth studying further; it does not show that acting on them treats or prevents the disease.
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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 | 2009 — 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 3,334 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 175.5 citations a year over 19 year(s) since 2009 |
| Impact for its field and year | 6 / 6 | Cited 151.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 6 / 6 | Cited by 200 other studies in this library |
| Still being cited | 4 / 4 | Cited 287 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Julie H. Williams: h-index 82 (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 49 institution(s) in 6 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 19734902) |
| 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
- DOI: 10.1038/ng.440
- PubMed: 19734902
- Original source →
- Free full text: Arrow@dit (Dublin Institute of Technology) →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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