Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes
Aamira J Huq, Brian Fulton-Howard, Moeen Riaz, Simon Laws, Robert Sebra, Joanne Ryan, Alzheimer's Disease Genetics Consortium, Alan E Renton et al.. Alzheimer's & dementia (Amsterdam, Netherlands), 2021-08-05
Topic: Genetics and APOE
The PRS for AD was significantly higher in APOE ε4 homozygote AD cases compared to older cognitively healthy APOE ε4/ε4 controls (odds ratio [OR] 8.39; confidence interval [CI] 2.0-35.2; P = .003). The difference in the same PRS between APOE ε3/ε3 extremes was not as significant (OR 3.13; CI 0.98-9.92; P = .053) despite similar numbers and power. There was no statistical difference in an educational attainment PRS between these age extreme case-controls. A PRS for AD contributes to modified cognitive expression of the APOE ε4/ε4 genotype at phenotypic extremes of risk.
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APA 7th
Huq, A. J., Fulton-Howard, B., Riaz, M., Laws, S., Sebra, R., Ryan, J., et al. (2021). Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes. Alzheimer's & dementia (Amsterdam, Netherlands). https://doi.org/10.1002/dad2.12226
Vancouver
Huq AJ, Fulton-Howard B, Riaz M, Laws S, Sebra R, Ryan J, et al. Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes. Alzheimer's & dementia (Amsterdam, Netherlands). 2021. doi:10.1002/dad2.12226. PMID: 34386572.
BibTeX
@article{huq2021-34386572,
author = {Huq, Aamira J and Fulton-Howard, Brian and Riaz, Moeen and Laws, Simon and Sebra, Robert and Ryan, Joanne and {Alzheimer's Disease Genetics Consortium} and Renton, Alan E and others},
title = {{Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes}},
journal = {Alzheimer's \& dementia (Amsterdam, Netherlands)},
year = {2021},
doi = {10.1002/dad2.12226},
pmid = {34386572},
url = {https://doi.org/10.1002/dad2.12226}
}
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Key findings
- The PRS for AD was significantly higher in APOE ε4 homozygote AD cases compared to older cognitively healthy APOE ε4/ε4 controls (odds ratio [OR] 8.39; confidence interval [CI] 2.0-35.2; P = .003).
- The difference in the same PRS between APOE ε3/ε3 extremes was not as significant (OR 3.13; CI 0.98-9.92; P = .053) despite similar numbers and power.
- There was no statistical difference in an educational attainment PRS between these age extreme case-controls.
- A PRS for AD contributes to modified cognitive expression of the APOE ε4/ε4 genotype at phenotypic extremes of risk.
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Study details
- Participants213
- Effect sizeOR 3.13
- Evidence strengthLow
How this study scored 59/100
Published in a leading specialty journal. Scored zero for study design and randomised / blinded 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 33 of the 56 points we could judge it on, which is 59 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia (Amsterdam, Netherlands)) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 2 / 4 | 213 participants |
| Effect reported | 3 / 3 | Effect reported with a statistic (interval, p-value, ratio or similar) |
| 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 | — / 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 34386572) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 33 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 33 of the 56 points we could judge it on is 59 out of 100. |
| Total | 59 / 100 | — |
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