Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease
Yi-Jun Ge, Shi-Dong Chen, Bang-Sheng Wu, Ya-Ru Zhang, Jun Wang, Xiao-Yu He, Wei-Shi Liu, Yi-Lin Chen et al.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024-07-18
Topic: Genetics and APOE
In addition to the apolipoprotein E (APOE) locus, our GWAS of two independent Chinese samples uncovered three novel AD susceptibility loci (KIAA2013, SLC52A3, and TCN2) and a novel ancestry-specific variant within EGFR (rs1815157). More replicated variants were observed in the Chinese (31%) than in the European samples (15%). In combining genome-wide associations and functional annotations, EGFR and TCN2 were prioritized as two of the most biologically significant genes. Phenome-wide Mendelian randomization suggests that high mean corpuscular hemoglobin concentration might protect against AD. The current study reveals novel AD susceptibility loci, emphasizes the importance of diverse populations in AD genetic research, and advances our understanding of disease etiology. HIGHLIGHTS: Loci KIAA2013, SLC52A3, and TCN2 were associated with Alzheimer's disease (AD) in Chinese populations. rs1815157 within the EGFR locus was associated with AD in Chinese populations. The genetic architecture of AD varied between Chinese and European populations. EGFR and TCN2 were prioritized as two of the most biologically significant genes. High mean corpuscular hemoglobin concentrations might have protective effects against AD.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Ge, Y.-J., Chen, S.-D., Wu, B.-S., Zhang, Y.-R., Wang, J., He, X.-Y., et al. (2024). Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association. https://doi.org/10.1002/alz.14121
Vancouver
Ge Y.-J, Chen S.-D, Wu B.-S, Zhang Y.-R, Wang J, He X.-Y, et al. Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2024. doi:10.1002/alz.14121. PMID: 39023044.
BibTeX
@article{ge2024-39023044,
author = {Ge, Yi-Jun and Chen, Shi-Dong and Wu, Bang-Sheng and Zhang, Ya-Ru and Wang, Jun and He, Xiao-Yu and Liu, Wei-Shi and Chen, Yi-Lin and others},
title = {{Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease}},
journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association},
year = {2024},
doi = {10.1002/alz.14121},
pmid = {39023044},
url = {https://doi.org/10.1002/alz.14121}
}
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Key findings
- In addition to the apolipoprotein E (APOE) locus, our GWAS of two independent Chinese samples uncovered three novel AD susceptibility loci (KIAA2013, SLC52A3, and TCN2) and a novel ancestry-specific variant within EGFR (rs1815157).
- More replicated variants were observed in the Chinese (31%) than in the European samples (15%).
- In combining genome-wide associations and functional annotations, EGFR and TCN2 were prioritized as two of the most biologically significant genes.
- Phenome-wide Mendelian randomization suggests that high mean corpuscular hemoglobin concentration might protect against AD.
- The current study reveals novel AD susceptibility loci, emphasizes the importance of diverse populations in AD genetic research, and advances our understanding of disease etiology.
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Study details
- Evidence strengthLow
How this study scored 68/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 38 of the 56 points we could judge it on, which is 68 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia : the journal of the Alzheimer's Association) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 12 / 12 | A meta-analysis pooling many studies (from PubMed type “Meta-Analysis”) |
| 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 | 4 / 5 | 2024 — within 3 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 | A review of other studies — randomisation is not credited here |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 39023044) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 38 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 38 of the 56 points we could judge it on is 68 out of 100. |
| Total | 68 / 100 | — |
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