ArticleGenetic epidemiology2018
Predictive accuracy of combined genetic and environmental risk scores.
Article in Genetic epidemiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of gene-by-intervention studies of alcohol and other substance use.Development and psychopathology · 2021Pooled it
- Polygenic architecture of brain structure and function, behaviors, and psychopathologies in children.Nature communications · 2025Article
- Brain Neurotrophins and Plant Polyphenols: A Powerful Connection.Molecules (Basel, Switzerland) · 2025Review
- Predicting ADHD in alcohol dependence using polygenic risk scores for ADHD.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024Article
- Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction.Communications biology · 2024Article
- Age-dependent genes in adipose stem and precursor cells affect regulation of fat cell differentiation and link aging to obesity via cellular and genetic interactions.Genome medicine · 2024Article
- Polygenic predisposition, sleep duration, and depression: evidence from a prospective population-based cohort.Translational psychiatry · 2023Article
- Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts.Cell genomics · 2023Article
- Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies.Biomedicines · 2021Review
- Genetic prediction of complex traits with polygenic scores: a statistical review.Trends in genetics : TIG · 2021Review
- Genetic propensity for obesity, socioeconomic position, and trajectories of body mass index in older adults.Scientific reports · 2021Article
- The X factor: A robust and powerful approach to X-chromosome-inclusive whole-genome association studies.Genetic epidemiology · 2021Article
- Association Between Genetic Risks for Obesity and Working Memory in Children.Frontiers in neuroscience · 2021Article
- Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.Journal of medical genetics · 2020Review
- Multivariable G-E interplay in the prediction of educational achievement.PLoS genetics · 2020Observational
- Tutorial: a guide to performing polygenic risk score analyses.Nature protocols · 2020Review
- Polygenic risk scores: from research tools to clinical instruments.Genome medicine · 2020Review
- Genetic Basis of Obesity and Type 2 Diabetes in Africans: Impact on Precision Medicine.Current diabetes reports · 2019Review
- Article
- Reference Trait Analysis Reveals Correlations Between Gene Expression and Quantitative Traits in Disjoint Samples.Genetics · 2019Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
The substantial heritability of most complex diseases suggests that genetic data could provide useful risk prediction. To date the performance of genetic risk scores has fallen short of the potential implied by heritability, but this can be explained by insufficient sample sizes for estimating highly polygenic models. When risk predictors already exist based on environment or lifestyle, two key questions are to what extent can they be improved by adding genetic information, and what is the ultimate potential of combined genetic and environmental risk scores? Here, we extend previous work on the predictive accuracy of polygenic scores to allow for an environmental score that may be correlated with the polygenic score, for example when the environmental factors mediate the genetic risk. We derive common measures of predictive accuracy and improvement as functions of the training sample size, chip heritabilities of disease and environmental score, and genetic correlation between disease and environmental risk factors. We consider simple addition of the two scores and a weighted sum that accounts for their correlation. Using examples from studies of cardiovascular disease and breast cancer, we show that improvements in discrimination are generally small but reasonable degrees of reclassification could be obtained with current sample sizes. Correlation between genetic and environmental scores has only minor effects on numerical results in realistic scenarios. In the longer term, as the accuracy of polygenic scores improves they will come to dominate the predictive accuracy compared to environmental scores.
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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.