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Genetic control of human brain transcript expression in Alzheimer disease
Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, Rohrer K, Zhao A et al.. American journal of human genetics, 2009-04-01
Topic: Amyloid, tau and blood-test diagnosis
We recently surveyed the relationship between the human brain transcriptome and genome in a series of neuropathologically normal postmortem samples. We have now analyzed additional samples with a confirmed pathologic diagnosis of late-onset Alzheimer disease (LOAD; final n = 188 controls, 176 cases). Nine percent of the cortical transcripts that we analyzed had expression profiles correlated with their genotypes in the combined cohort, and approximately 5% of transcripts had SNP-transcript relationships that could distinguish LOAD samples.
Key findings
- We have now analyzed additional samples with a confirmed pathologic diagnosis of late-onset Alzheimer disease (LOAD; final n = 188 controls, 176 cases).
- Nine percent of the cortical transcripts that we analyzed had expression profiles correlated with their genotypes in the combined cohort, and approximately 5% of transcripts had SNP-transcript relationships that could distinguish LOAD samples.
- Two of these transcripts have been previously implicated in LOAD candidate-gene SNP-expression screens.
- This study shows how the relationship between common inherited genetic variants and brain transcript expression can be used in the study of human brain disorders.
Why it matters
This study analyzed brain transcript and genome data from 188 controls and 176 late-onset Alzheimer disease cases, finding that some transcripts had SNP relationships that could distinguish cases. It identifies genetic and expression patterns but does not provide a treatment or cure.
Study details
- Participants188
- Evidence strengthModerate
How this study scored 57/100
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 (American journal of human genetics) |
| Journal's citation record | 3 / 4 | The American Journal of Human Genetics: journal h-index 385 (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 | 3 / 5 | Rated “moderate” 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 | 2 / 4 | 188 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 | 6 / 7 | Cited 308 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 16.2 citations a year over 19 year(s) since 2009 |
| Impact for its field and year | 4 / 6 | Cited 15.2× 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 | 2 / 4 | Cited 35 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Amanda Myers: h-index 50 (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 13 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 19361613) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 57 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/j.ajhg.2009.03.011
- PubMed: 19361613
- Original source →
- Free full text: The American Journal of Human Genetics →
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
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's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Webster, J. A., Gibbs, JR., Clarke, J., Ray, M., Zhang, W., Holmans, P., et al. (2009). Genetic control of human brain transcript expression in Alzheimer disease. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2009.03.011
Vancouver
Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, et al. Genetic control of human brain transcript expression in Alzheimer disease. American journal of human genetics. 2009. doi:10.1016/j.ajhg.2009.03.011. PMID: 19361613.
BibTeX
@article{webster2009-19361613,
author = {Webster, J. A. and Gibbs, JR. and Clarke, J. and Ray, M. and Zhang, W. and Holmans, P. and Rohrer, K. and Zhao, A. and others},
title = {{Genetic control of human brain transcript expression in Alzheimer disease}},
journal = {American journal of human genetics},
year = {2009},
doi = {10.1016/j.ajhg.2009.03.011},
pmid = {19361613},
url = {https://doi.org/10.1016/j.ajhg.2009.03.011}
}
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