Topic: Amyloid, tau and blood-test diagnosis
The genetics of Alzheimer disease (AD) to date support an age-dependent dichotomous model whereby earlier age of disease onset ( or = 65 years) representing most cases of AD has yet to be explained by a purely genetic model. The APOE gene (NCBI Entrez gene 348) is the strongest genetic risk factor for later onset, although it is neither sufficient nor necessary to explain all occurrences of disease. Numerous putative genetic risk alleles and genetic variants have been reported. Although all have relevance to biological mechanisms that may be associated with AD pathogenesis, they await replication in large representative populations. Genome-wide association studies have emerged as an increasingly effective tool for identifying genetic contributions to complex diseases and represent the next frontier for furthering our understanding of the underlying etiologic, biological, and pathologic mechanisms associated with chronic complex disorders. There have already been success stories for diseases such as macular degeneration and diabetes mellitus. Whether this will hold true for a genetically complex and heterogeneous disease such as AD is not known, although early reports are encouraging. This review considers recent publications from studies that have successfully applied genome-wide association methods to investigations of AD by taking advantage of the currently available high-throughput arrays, bioinformatics, and software advances. The inherent strengths, limitations, and challenges associated with study design issues in the context of AD are presented herein.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Waring, S. C., & Rosenberg, R. N. (2008). Genome-wide association studies in Alzheimer disease. Archives of neurology. https://doi.org/10.1001/archneur.65.3.329
Vancouver
Waring SC, Rosenberg RN. Genome-wide association studies in Alzheimer disease. Archives of neurology. 2008. doi:10.1001/archneur.65.3.329. PMID: 18332245.
BibTeX
@article{waring2008-18332245,
author = {Waring, S. C. and Rosenberg, R. N.},
title = {{Genome-wide association studies in Alzheimer disease}},
journal = {Archives of neurology},
year = {2008},
doi = {10.1001/archneur.65.3.329},
pmid = {18332245},
url = {https://doi.org/10.1001/archneur.65.3.329}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- Although all have relevance to biological mechanisms that may be associated with AD pathogenesis, they await replication in large representative populations.
- Genome-wide association studies have emerged as an increasingly effective tool for identifying genetic contributions to complex diseases and represent the next frontier for furthering our understanding of the underlying etiologic, biological, and pathologic mechanisms associated with chronic complex disorders.
- The inherent strengths, limitations, and challenges associated with study design issues in the context of AD are presented herein.
Why it matters
This review explains that APOE is the strongest known genetic risk factor for later-onset Alzheimer's disease, but it is neither sufficient nor necessary to cause the disease. It states that many other reported genetic risk variants still await replication in large populations before their role is clear.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 46/100
Published in a peer-reviewed 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 | 7 / 10 | Tier 3 — peer-reviewed journal (Archives of neurology) |
| Journal's citation record | 3 / 4 | Archives of Neurology: journal h-index 353 (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 | 2008 — 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 236 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 11.8 citations a year over 20 year(s) since 2008 |
| Impact for its field and year | 4 / 6 | Cited 13.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 6 other studies in this library |
| Still being cited | 1 / 4 | Cited 9 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Roger N. Rosenberg: h-index 57 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Baylor College of Medicine: institution h-index 1,607 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 18332245) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 46 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
May need a subscription Unpaywall, Europe PMC and OpenAlex found no free copy of the full text (checked 10 Oct 2026), so the publisher may charge for it. The PubMed abstract is free.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
6 studies in the alzhub library list this one in their references.
Related studies in Genetics
Also in Genetics
202 studies in the library are filed under Genetics with no topic tag they share with another; these are this study's neighbours in a fixed tour of them. The Genetics hub.