Topic: Genetics and APOE
Collecting cases for case-control genetic association studies can be time-consuming and expensive. In some situations (such as studies of late-onset or rapidly lethal diseases), it may be more practical to identify family members of cases. In randomly ascertained cohorts, replacing cases with their first-degree relatives enables studies of diseases that are absent (or nearly absent) in the cohort. We refer to this approach as genome-wide association study by proxy (GWAX) and apply it to 12 common diseases in 116,196 individuals from the UK Biobank. Meta-analysis with published genome-wide association study summary statistics replicated established risk loci and yielded four newly associated loci for Alzheimer's disease, eight for coronary artery disease and five for type 2 diabetes. In addition to informing disease biology, our results demonstrate the utility of association mapping without directly observing cases. We anticipate that GWAX will prove useful in future genetic studies of complex traits in large population cohorts.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Liu, J. Z., Erlich, Y., & Pickrell, J. K. (2017). Case-control association mapping by proxy using family history of disease. Nature genetics. https://doi.org/10.1038/ng.3766
Vancouver
Liu JZ, Erlich Y, Pickrell JK. Case-control association mapping by proxy using family history of disease. Nature genetics. 2017. doi:10.1038/ng.3766. PMID: 28092683.
BibTeX
@article{liu2017-28092683,
author = {Liu, J. Z. and Erlich, Y. and Pickrell, J. K.},
title = {{Case-control association mapping by proxy using family history of disease}},
journal = {Nature genetics},
year = {2017},
doi = {10.1038/ng.3766},
pmid = {28092683},
url = {https://doi.org/10.1038/ng.3766}
}
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Key findings
- In addition to informing disease biology, our results demonstrate the utility of association mapping without directly observing cases.
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Study details
- Study designmeta-analysis
- Participants116,196
- Evidence strengthHigh
How this study scored 81/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported 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 multi-centre collaboration, so those were left out: it earned 47 of the 58 points we could judge it on, which is 81 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Nature genetics) |
| 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 |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 4 / 4 | 116,196 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| 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 28092683) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 47 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 47 of the 58 points we could judge it on is 81 out of 100. |
| Total | 81 / 100 | — |
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