ArticleAmerican journal of human genetics2018
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 11 of them syntheses that pooled it.
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Who cites it
106 citing papers in PubMed, 11 syntheses or guidelines pooled it.
- Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.Nature genetics · 2026Pooled it
- Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks.PLoS genetics · 2023Pooled it
- Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.Translational psychiatry · 2023Pooled it
- Association of Vitamin D Polygenic Risk Scores and Disease Outcome in People With Multiple Sclerosis.Neurology(R) neuroimmunology & neuroinflammation · 2023Pooled it
- Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.The British journal of dermatology · 2022Pooled it
- Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.Nature communications · 2021Pooled it
- Causal Relationship and Shared Genetic Loci between Psoriasis and Type 2 Diabetes through Trans-Disease Meta-Analysis.The Journal of investigative dermatology · 2021Pooled it
- LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks.PLoS genetics · 2020Pooled it
- Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems.The American journal of psychiatry · 2019Pooled it
- Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.Nature communications · 2019Pooled it
- Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits.Current protocols in human genetics · 2019Pooled it
- Pharmacogenomics polygenic risk score for drug response prediction using PRS-PGx methods.Nature communications · 2022Trial
- Trial
- AI-driven integration of genomic and exposome data for cancer risk: the combined risk score (CRS).Human genomics · 2026Review
- Integrating network annotation from multiple correlated traits to improve polygenic risk scores based on GWAS summary statistics.Research square · 2026Article
- Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program.American journal of human genetics · 2026Article
- Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding.American journal of human genetics · 2025Article
- Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction.Nature genetics · 2025Article
- Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program.medRxiv : the preprint server for health sciences · 2025Article
- Genetic Liabilities to Neuropsychiatric Conditions in Suicide Deaths With No Prior Suicidality.JAMA network open · 2025Article
46 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors.
Funding
Abstract
Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine. PRS for 12 cancer traits were calculated using summary statistics from the NHGRI-EBI catalog. A total of 1,711 synthetic case-control studies was used for PheWAS analyses. There were 13,490 (47.7%) patients with at least one cancer diagnosis in this study sample. PRS exhibited strong association for several cancer traits they were designed for, including female breast cancer, prostate cancer, melanoma, basal cell carcinoma, squamous cell carcinoma, and thyroid cancer. Phenome-wide significant associations were observed between PRS and many non-cancer diagnoses. To differentiate PRS associations driven by the primary trait from associations arising through shared genetic risk profiles, the idea of "exclusion PRS PheWAS" was introduced. Further analysis of temporal order of the diagnoses improved our understanding of these secondary associations. This comprehensive PheWAS used PRS instead of a single variant.
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