SynthesisNature genetics2017
Case-control association mapping by proxy using family history of disease.
Synthesis in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 168 papers, 10 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
168 citing papers in PubMed, 10 syntheses or guidelines pooled it.
- Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias.Nature genetics · 2026Pooled it
- Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease-associated genes in the Hispanic population.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Pooled it
- Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Pooled it
- Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.Nature genetics · 2023Pooled it
- Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden.Journal of the National Cancer Institute · 2022Pooled it
- Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.Nature genetics · 2021Pooled it
- Interpretation of risk loci from genome-wide association studies of Alzheimer's disease.The Lancet. Neurology · 2020Pooled it
- A Prospective Analysis of Genetic Variants Associated with Human Lifespan.G3 (Bethesda, Md.) · 2019Pooled it
- Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nature genetics · 2019Pooled it
- Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.Nature genetics · 2019Pooled it
- Biobank-based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus: insights and lessons learned from FinnGen.Molecular psychiatry · 2026Review
- Regional choroid plexus calcifications and their associations with aging, brain structure, and disease.bioRxiv : the preprint server for biology · 2026Article
- MicroRNA-223 Enhances Microglia-Dependent Clearance of Amyloid Beta Plaques and Ameliorates Behavioral Deficits in a Mouse Model of Alzheimer's Disease.bioRxiv : the preprint server for biology · 2026Article
- Amyloid Precursor Protein Processing Links Female Urgency Urinary Incontinence with Alzheimer's Disease: Implications for Treatment.International journal of molecular sciences · 2026Article
- Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Shared genetic architecture between Alzheimer's disease and brain morphology.Alzheimer's research & therapy · 2026Article
- GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease.Nature communications · 2026Article
- UK Biobank at 20 - a growing, global resource for dementia research.Nature reviews. Neurology · 2026Review
- APOE*4 risk-modifying genes and drug targets in Alzheimer's disease through cell-type-specific genomic analyses.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- A Genome-wide Association Study of Alzheimer's Disease and Dementia in a Large Multi-ancestry Military Cohort Identifies Many New Dementia-Associated Loci.medRxiv : the preprint server for health sciences · 2026Article
108 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.