Polygenic risk and hazard scores for Alzheimer's disease prediction
Ganna Leonenko, Rebecca Sims, Maryam Shoai, Aura Frizzati, Paola Bossù, Gianfranco Spalletta, Nick C Fox, Julie Williams et al.. Annals of clinical and translational neurology, 2019-02-18
Topic: Genetics and APOE
Polygenic Risk Score significantly predicted the risk associated with age at AD onset when SNPs were preselected for association to AD at P ≤ 0.001. The strongest effect (B = 0.28, SE = 0.04, P = 2.5 × 10-12) was observed for PRS based upon genome-wide significant SNPs (P ≤ 5 × 10-8). The strength of association was weaker with less stringent SNP selection thresholds. Both PRS and PHS can be used to predict an age-specific risk for developing AD. The PHS approach uses SNP effect sizes derived with the Cox Proportional Hazard Regression model. When SNPs were selected based upon AD GWAS case/control P ≤ 10-3, we found no advantage of using SNP effects sizes calculated with the Cox Proportional Hazard Regression model in our study. When SNPs are selected for association with AD risk at P > 10-3, the age-specific risk prediction results are not significant for either PRS or PHS. However PHS could be more advantageous than PRS of age specific AD risk predictions when SNPs are prioritized for association with AD age at onset (i.e., powerful Cox Regression GWAS study).
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APA 7th
Leonenko, G., Sims, R., Shoai, M., Frizzati, A., Bossù, P., Spalletta, G., et al. (2019). Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of clinical and translational neurology. https://doi.org/10.1002/acn3.716
Vancouver
Leonenko G, Sims R, Shoai M, Frizzati A, Bossù P, Spalletta G, et al. Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of clinical and translational neurology. 2019. doi:10.1002/acn3.716. PMID: 30911569.
BibTeX
@article{leonenko2019-30911569,
author = {Leonenko, Ganna and Sims, Rebecca and Shoai, Maryam and Frizzati, Aura and Bossù, Paola and Spalletta, Gianfranco and Fox, Nick C and Williams, Julie and others},
title = {{Polygenic risk and hazard scores for Alzheimer's disease prediction}},
journal = {Annals of clinical and translational neurology},
year = {2019},
doi = {10.1002/acn3.716},
pmid = {30911569},
url = {https://doi.org/10.1002/acn3.716}
}
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Key findings
- Polygenic Risk Score significantly predicted the risk associated with age at AD onset when SNPs were preselected for association to AD at P ≤ 0.001.
- The strongest effect (B = 0.28, SE = 0.04, P = 2.5 × 10-12) was observed for PRS based upon genome-wide significant SNPs (P ≤ 5 × 10-8).
- The strength of association was weaker with less stringent SNP selection thresholds.
- Both PRS and PHS can be used to predict an age-specific risk for developing AD.
- The PHS approach uses SNP effect sizes derived with the Cox Proportional Hazard Regression model.
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Study details
- Evidence strengthLow
How this study scored 61/100
Published in a peer-reviewed 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, multicenter collaboration and free to read, so those were left out: it earned 34 of the 56 points we could judge it on, which is 61 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Annals of clinical and translational neurology) |
| 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 | 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) |
| Randomized / blinded | 0 / 2 | A review of other studies — randomization 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 |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30911569) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 34 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 34 of the 56 points we could judge it on is 61 out of 100. |
| Total | 61 / 100 | — |
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