Phenome-wide analysis of genome-wide polygenic scores
Eva M. L. Krapohl, Jack Euesden, Delilah Zabaneh, Jean‐Baptiste Pingault, Kaili Rimfeld, Sophie von Stumm, Philip S. Dale, Gerome D. Breen et al.. Molecular Psychiatry, 2015-08-25
Topic: Genetics and APOE
Genome-wide polygenic scores (GPS), which aggregate the effects of thousands of DNA variants from genome-wide association studies (GWAS), have the potential to make genetic predictions for individuals. We conducted a systematic investigation of associations between GPS and many behavioral traits, the behavioral phenome. For 3152 unrelated 16-year-old individuals representative of the United Kingdom, we created 13 GPS from the largest GWAS for psychiatric disorders (for example, schizophrenia, depression and dementia) and cognitive traits (for example, intelligence, educational attainment and intracranial volume). The behavioral phenome included 50 traits from the domains of psychopathology, personality, cognitive abilities and educational achievement. We examined phenome-wide profiles of associations for the entire distribution of each GPS and for the extremes of the GPS distributions. The cognitive GPS yielded stronger predictive power than the psychiatric GPS in our UK-representative sample of adolescents. For example, education GPS explained variation in adolescents' behavior problems (~0.6%) and in educational achievement (~2%) but psychiatric GPS were associated with neither. Despite the modest effect sizes of current GPS, quantile analyses illustrate the ability to stratify individuals by GPS and opportunities for research. For example, the highest and lowest septiles for the education GPS yielded a 0.5 s.d. difference in mean math grade and a 0.25 s.d. difference in mean behavior problems. We discuss the usefulness and limitations of GPS based on adult GWAS to predict genetic propensities earlier in development.
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APA 7th
Krapohl, E. M. L., Euesden, J., Zabaneh, D., Pingault, J., Rimfeld, K., von Stumm, S., et al. (2015). Phenome-wide analysis of genome-wide polygenic scores. Molecular Psychiatry. https://doi.org/10.1038/mp.2015.126
Vancouver
Krapohl EML, Euesden J, Zabaneh D, Pingault J, Rimfeld K, von Stumm S, et al. Phenome-wide analysis of genome-wide polygenic scores. Molecular Psychiatry. 2015. doi:10.1038/mp.2015.126. PMID: 26303664.
BibTeX
@article{krapohl2015-26303664,
author = {Krapohl, Eva M. L. and Euesden, Jack and Zabaneh, Delilah and Pingault, Jean‐Baptiste and Rimfeld, Kaili and von Stumm, Sophie and Dale, Philip S. and Breen, Gerome D. and others},
title = {{Phenome-wide analysis of genome-wide polygenic scores}},
journal = {Molecular Psychiatry},
year = {2015},
doi = {10.1038/mp.2015.126},
pmid = {26303664},
url = {https://doi.org/10.1038/mp.2015.126}
}
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Key findings
- For example, education GPS explained variation in adolescents' behavior problems (~0.6%) and in educational achievement (~2%) but psychiatric GPS were associated with neither.
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Study details
- Participants50
- Effect size0.6%
- Evidence strengthLow
How this study scored 53/100
Published in a leading specialty journal. Scored zero for study design and randomized / 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 and multicenter collaboration, so those were left out: it earned 31 of the 58 points we could judge it on, which is 53 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Molecular Psychiatry) |
| 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 | 1 / 5 | 2015 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 50 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomized / blinded | 0 / 2 | No randomization 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 |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 26303664) |
| Free to read | 2 / 2 | Free to read |
| Points | 31 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 31 of the 58 points we could judge it on is 53 out of 100. |
| Total | 53 / 100 | — |
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