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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk
Iris E. Jansen, Jeanne E. Savage, Kyoko Watanabe, Julien Bryois, Dylan M. Williams, Stacy Steinberg, Julia Sealock, Ida Karlsson et al.. Nature Genetics, 2019-01-02
Topic: Amyloid, tau and blood-test diagnosis
Researchers performed a genome-wide association study of clinically diagnosed Alzheimer's disease and disease-by-proxy. The meta-analysis identified new risk loci and potential causative genes that are strongly expressed in immune-related tissues and cell types. Furthermore, the findings indicated biological mechanisms involving lipid-related processes and suggested a protective effect of cognitive ability on disease risk.
Key findings
- Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver, and microglia).
- Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins.
- Mendelian randomization results suggest a protective effect of cognitive ability on AD risk.
Why it matters
A genome-wide meta-analysis reporting new loci and functional pathways that influence Alzheimer's disease risk. Loci and pathways indicate where treatments might be sought; this work does not supply one.
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Study details
- Evidence strengthLow
How this study scored 67/100
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 | 2 / 5 | 2019 — within 10 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 2,285 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 253.9 citations a year over 9 year(s) since 2019 |
| Impact for its field and year | 6 / 6 | Cited 168.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 5 / 6 | Cited by 106 other studies in this library |
| Still being cited | 4 / 4 | Cited 796 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Daniëlle Posthuma: h-index 128 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Broad Institute: institution h-index 2,541 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 39 institution(s) in 7 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30617256) |
| Free to read | 2 / 2 | Free to read |
| Total | 67 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1038/s41588-018-0311-9
- PubMed: 30617256
- Original source →
- Free full text: VU Research Portal →
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
Jansen, I. E., Savage, J. E., Watanabe, K., Bryois, J., Williams, D. M., Steinberg, S., et al. (2019). Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk. Nature Genetics. https://doi.org/10.1038/s41588-018-0311-9
Vancouver
Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, et al. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk. Nature Genetics. 2019. doi:10.1038/s41588-018-0311-9. PMID: 30617256.
BibTeX
@article{jansen2019-30617256,
author = {Jansen, Iris E. and Savage, Jeanne E. and Watanabe, Kyoko and Bryois, Julien and Williams, Dylan M. and Steinberg, Stacy and Sealock, Julia and Karlsson, Ida and others},
title = {{Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk}},
journal = {Nature Genetics},
year = {2019},
doi = {10.1038/s41588-018-0311-9},
pmid = {30617256},
url = {https://doi.org/10.1038/s41588-018-0311-9}
}
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