ReviewGenetic epidemiology2016
Polygenic Epidemiology.
Review in Genetic epidemiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 91 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
91 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Overcoming attenuation bias in regressions using polygenic indices.Nature communications · 2023Pooled it
- Reporting methodological issues of the mendelian randomization studies in health and medical research: a systematic review.BMC medical research methodology · 2022Pooled it
- A systematic review of gene-by-intervention studies of alcohol and other substance use.Development and psychopathology · 2021Pooled it
- Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.Nature genetics · 2018Pooled it
- Transdiagnostic child mental health trajectories in Japan: protocol for a nationwide web‑based open cohort study.BMC psychiatry · 2026Article
- Genetically Informed Research Designs in Perinatal Pharmacoepidemiology: A Methodological Overview.Drug safety · 2026Review
- Causal Transformer for Learning Embeddings from Structured Medical History Records and Multi-Source Data Integration for Complex Disease Risk Prediction.Interdisciplinary sciences, computational life sciences · 2026Article
- Prenatal famine exposure restricts genetic effects on birth weight with implications for metabolic disease risk.Communications medicine · 2026Article
- Associations between epilepsy-related polygenic risk and brain morphology in childhood.Brain : a journal of neurology · 2026Article
- The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory.American journal of human genetics · 2026Article
- Accounting for the impact of rare variants on causal inference with RARE: a novel multivariable Mendelian randomization method.Briefings in bioinformatics · 2025Article
- Genome-wide association analysis reveals insights into the genetic architecture of mesenteric torsion in pigs.Scientific reports · 2025Article
- Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings.Nature genetics · 2025Article
- Investigating the causal association between heme oxygenase-1 and asthma: A bidirectional two-sample Mendelian randomization analysis in a European population.The World Allergy Organization journal · 2024Article
- Family Genetic-Risk Profiles Associated With Divorce.Clinical psychological science : a journal of the Association for Psychological Science · 2024Article
- A Novel Interaction between a 23-SNP Genetic Risk Score and Monounsaturated Fatty Acid Intake on HbA1c Levels in Southeast Asian Women.Nutrients · 2024Article
- The relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank.GeroScience · 2024Article
- Beyond the factor indeterminacy problem using genome-wide association data.Nature human behaviour · 2024Review
- Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation.BMC genomic data · 2023Article
- Potential application of elastic nets for shared polygenicity detection with adapted threshold selection.The international journal of biostatistics · 2023Article
31 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
1 author.
Funding
Abstract
Much of the genetic basis of complex traits is present on current genotyping products, but the individual variants that affect the traits have largely not been identified. Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treating it as a single entity. Here I briefly review some of these applications, which collectively may be termed polygenic epidemiology. Methodologies in this area include polygenic scoring, linear mixed models, and linkage disequilibrium scoring. They have been used to establish a polygenic effect, estimate genetic correlation between traits, estimate how many variants affect a trait, stratify cases into subphenotypes, predict individual disease risks, and infer causal effects using Mendelian randomization. Polygenic epidemiology will continue to yield useful applications even while much of the specific variation underlying complex traits remains undiscovered.
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What OpenQuestion holds
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.