Genetic variation and neuroimaging measures in Alzheimer disease
Biffi A, Anderson CD, Desikan RS, Sabuncu M, Cortellini L, Schmansky N, Salat D, Rosand J et al.. Archives of neurology, 2010-06-01
Topic: Amyloid, tau and blood-test diagnosis
Objective To investigate whether genome-wide association study (GWAS)-validated and GWAS-promising candidate loci influence magnetic resonance imaging measures and clinical Alzheimer's disease (AD) status. Design Multicenter case-control study of genetic and neuroimaging data from the Alzheimer's Disease Neuroimaging Initiative. Setting Multicenter GWAS. Patients A total of 168 individuals with probable AD, 357 with mild cognitive impairment, and 215 cognitively normal control individuals recruited from more than 50 Alzheimer's Disease Neuroimaging Initiative centers in the United States and Canada. All study participants had APOE and genome-wide genetic data available. Main outcome measures We investigated the influence of GWAS-validated and GWAS-promising novel AD loci on hippocampal volume, amygdala volume, white matter lesion volume, entorhinal cortex thickness, parahippocampal gyrus thickness, and temporal pole cortex thickness. Results Markers at the APOE locus were associated with all phenotypes except white matter lesion volume (all false discovery rate-corrected P values Conclusions Loci associated with AD also influence neuroimaging correlates of this disease. Furthermore, neuroimaging analysis identified 2 additional loci of high interest for further study.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Biffi, A., Anderson, C. D., Desikan, R. S., Sabuncu, M., Cortellini, L., Schmansky, N., et al. (2010). Genetic variation and neuroimaging measures in Alzheimer disease. Archives of neurology. https://doi.org/10.1001/archneurol.2010.108
Vancouver
Biffi A, Anderson CD, Desikan RS, Sabuncu M, Cortellini L, Schmansky N, et al. Genetic variation and neuroimaging measures in Alzheimer disease. Archives of neurology. 2010. doi:10.1001/archneurol.2010.108. PMID: 20558387.
BibTeX
@article{biffi2010-20558387,
author = {Biffi, A. and Anderson, C. D. and Desikan, R. S. and Sabuncu, M. and Cortellini, L. and Schmansky, N. and Salat, D. and Rosand, J. and others},
title = {{Genetic variation and neuroimaging measures in Alzheimer disease}},
journal = {Archives of neurology},
year = {2010},
doi = {10.1001/archneurol.2010.108},
pmid = {20558387},
url = {https://doi.org/10.1001/archneurol.2010.108}
}
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.
Key findings
- Results Markers at the APOE locus were associated with all phenotypes except white matter lesion volume (all false discovery rate-corrected P values Conclusions Loci associated with AD also influence neuroimaging correlates of this disease.
Why it matters
Markers at the APOE locus were associated with several brain imaging measures in Alzheimer disease, and two additional loci were identified as being of high interest for further study. The findings link known Alzheimer risk loci to brain imaging features but do not establish a treatment or prevention.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Study designcase-control study
- Participants168
- Evidence strengthModerate
How this study scored 60/100
Published in a peer-reviewed journal, and it is a case-control study. Scored zero for effect reported 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 | 6 / 12 | A case-control study |
| 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 | 2010 — within 20 year(s) of the newest study here |
| Sample size | 2 / 4 | 168 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 223 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.4 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 4 / 6 | Cited 13.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 19 other studies in this library |
| Still being cited | 1 / 4 | Cited 13 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Alessandro Biffi: h-index 50 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Massachusetts General Hospital: institution h-index 2,057 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | PubMed indexes it as a multicentre study |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20558387) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 60 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/archneurol.2010.108
- PubMed: 20558387
- Original source →
- Free full text: PubMed Central →
Full text: free to read — PubMed Central lists this copy as free to read: the link above (checked 10 Oct 2026).
Related
Studies in the library that share something with this one. The line above each title says what.
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
19 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.
Related studies in Genetics
Also in Genetics
214 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.