Home › Research › TREM2 and immune genetics
Genomics of Alzheimer's disease implicates the innate and adaptive immune systems
Li Y, Laws SM, Miles LA, Wiley JS, Huang X, Masters CL, Gu BJ.. Cellular and molecular life sciences : CMLS, 2021-10-27
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) is a chronic neurodegenerative disease characterised by cognitive impairment, behavioural alteration, and functional decline. Over 130 AD-associated susceptibility loci have been identified by genome-wide association studies (GWAS), while whole genome sequencing (WGS) and whole exome sequencing (WES) studies have identified AD-associated rare variants. These variants are enriched in APOE, TREM2, CR1, CD33, CLU, BIN1, CD2AP, PILRA, SCIMP, PICALM, SORL1, SPI1, RIN3, and more genes.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Li, Y., Laws, S. M., Miles, L. A., Wiley, J. S., Huang, X., Masters, C. L., et al. (2021). Genomics of Alzheimer's disease implicates the innate and adaptive immune systems. Cellular and molecular life sciences : CMLS. https://doi.org/10.1007/s00018-021-03986-5
Vancouver
Li Y, Laws SM, Miles LA, Wiley JS, Huang X, Masters CL, et al. Genomics of Alzheimer's disease implicates the innate and adaptive immune systems. Cellular and molecular life sciences : CMLS. 2021. doi:10.1007/s00018-021-03986-5. PMID: 34708251.
BibTeX
@article{li2021-34708251,
author = {Li, Y. and Laws, S. M. and Miles, L. A. and Wiley, J. S. and Huang, X. and Masters, C. L. and Gu, B. J.},
title = {{Genomics of Alzheimer's disease implicates the innate and adaptive immune systems}},
journal = {Cellular and molecular life sciences : CMLS},
year = {2021},
doi = {10.1007/s00018-021-03986-5},
pmid = {34708251},
url = {https://doi.org/10.1007/s00018-021-03986-5}
}
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 names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- Over 130 AD-associated susceptibility loci have been identified by genome-wide association studies (GWAS), while whole genome sequencing (WGS) and whole exome sequencing (WES) studies have identified AD-associated rare variants.
- These variants are enriched in APOE, TREM2, CR1, CD33, CLU, BIN1, CD2AP, PILRA, SCIMP, PICALM, SORL1, SPI1, RIN3, and more genes.
- Given that aging is the single largest risk factor for late-onset AD (LOAD), the accumulation of somatic mutations in the brain and blood of AD patients have also been explored.
- Collectively, these genetic findings implicate the role of innate and adaptive immunity in LOAD pathogenesis and suggest that a systemic failure of cell-mediated amyloid-β (Aβ) clearance contributes to AD onset and progression.
Why it matters
This review summarises that over 130 Alzheimer's disease-associated susceptibility loci have been identified, with variants enriched in immune-related genes including TREM2. It is a genomics review and does not report any treatment, cure, or prevention for Alzheimer's disease.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 44/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Cellular and molecular life sciences : CMLS) |
| Journal's citation record | 3 / 4 | Cellular and Molecular Life Sciences: journal h-index 329 (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 | 3 / 5 | 2021 — within 6 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 93 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 13.3 citations a year over 7 year(s) since 2021 |
| Impact for its field and year | 3 / 6 | Cited 7.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 3 / 4 | Cited 62 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Ben J. Gu: h-index 34 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | The University of Melbourne: institution h-index 1,342 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 34708251) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 44 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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. Showing 12 of 56.
Later studies that cite this one
2 studies in the alzhub library list this one in their references.
Related studies in TREM2 and immune genetics
Also in TREM2 and immune genetics
89 studies in the library are filed under TREM2 and immune genetics with no topic tag they share with another; these are this study's neighbours in a fixed tour of them. The TREM2 and immune genetics hub.