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Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease
Raghavan NS, Dumitrescu L, Mormino E, Mahoney ER, Lee AJ, Gao Y, Bilgel M, Goldstein D et al.. JAMA neurology, 2020-10-01
Topic: Amyloid, tau and blood-test diagnosis
The largest cohort, the Anti-Amyloid Treatment in Asymptomatic Alzheimer Disease Study (n = 3154), was the PET screening cohort used for a secondary prevention trial designed to slow cognitive decline associated with brain amyloidosis. Results From the 4314 analyzed participants (age, 52-96 years; 2478 participants [57%] were women), a novel locus for amyloidosis was noted within RBFOX1 (β = 0.61, P = 3 × 10-9) in addition to APOE. The findings of this study suggest that RBFOX1 is a novel locus that may be involved in the pathogenesis of Alzheimer disease.
Key findings
- The largest cohort, the Anti-Amyloid Treatment in Asymptomatic Alzheimer Disease Study (n = 3154), was the PET screening cohort used for a secondary prevention trial designed to slow cognitive decline associated with brain amyloidosis.
- Results From the 4314 analyzed participants (age, 52-96 years; 2478 participants [57%] were women), a novel locus for amyloidosis was noted within RBFOX1 (β = 0.61, P = 3 × 10-9) in addition to APOE.
- The findings of this study suggest that RBFOX1 is a novel locus that may be involved in the pathogenesis of Alzheimer disease.
Why it matters
This analysis found a new genetic locus, RBFOX1, associated with brain amyloidosis, in addition to APOE. It suggests RBFOX1 may be involved in the pathogenesis of Alzheimer's disease, but it does not show any treatment, cure or prevention.
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Study details
- Study designmeta-analysis
- Participants3,154
- Evidence strengthHigh
How this study scored 71/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 68 of the 96 points we could judge it on, which is 71 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (JAMA neurology) |
| Journal's citation record | 2 / 4 | JAMA Neurology: journal h-index 235 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A meta-analysis pooling many studies |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2020 — within 10 year(s) of the newest study here |
| Sample size | 3 / 4 | 3,154 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 | A review of other studies — randomisation is not credited here |
| Times cited | 4 / 7 | Cited 94 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 11.8 citations a year over 8 year(s) since 2020 |
| Impact for its field and year | 3 / 6 | Cited 5.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 5 other studies in this library |
| Still being cited | 2 / 4 | Cited 48 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 20 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 32568366) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 68 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 68 of the 96 points we could judge it on is 71 out of 100. |
| Total | 71 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/jamaneurol.2020.1760
- PubMed: 32568366
- 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).
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
Raghavan, N. S., Dumitrescu, L., Mormino, E., Mahoney, E. R., Lee, A. J., Gao, Y., et al. (2020). Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease. JAMA neurology. https://doi.org/10.1001/jamaneurol.2020.1760
Vancouver
Raghavan NS, Dumitrescu L, Mormino E, Mahoney ER, Lee AJ, Gao Y, et al. Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease. JAMA neurology. 2020. doi:10.1001/jamaneurol.2020.1760. PMID: 32568366.
BibTeX
@article{raghavan2020-32568366,
author = {Raghavan, N. S. and Dumitrescu, L. and Mormino, E. and Mahoney, E. R. and Lee, A. J. and Gao, Y. and Bilgel, M. and Goldstein, D. and others},
title = {{Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease}},
journal = {JAMA neurology},
year = {2020},
doi = {10.1001/jamaneurol.2020.1760},
pmid = {32568366},
url = {https://doi.org/10.1001/jamaneurol.2020.1760}
}
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