ArticleAmerican journal of human genetics2022
Systematic comparison of family history and polygenic risk across 24 common diseases.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 1 of them a synthesis that pooled it.
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Who cites it
111 citing papers in PubMed, 1 synthesis or guideline pooled it, 166 citations in OpenAlex.
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- Genetic risk stratification of common diseases in breast cancer survivors: a population-based cohort study.JNCI cancer spectrum · 2026Article
- Family History of Problem Drinking is Associated With Reduced Sensitivity of Alcohol Demand to Next-Day Responsibilities: A Replication and Extension.Journal of studies on alcohol and drugs · 2026Article
- Emerging trends in the global burden of colorectal cancer.Nature reviews. Clinical oncology · 2026Review
- Inherited risk of coronary artery disease: redefining care with imaging and genetics.Nature reviews. Cardiology · 2026Review
- Associations of polygenic risk scores for type 2 diabetes with metabolic measures in Pacific Islanders from Guam and Saipan.Journal of human genetics · 2026Article
- Polygenic scores in psychiatric research and clinical practice.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- PGS Browser: a public platform for personalized polygenic score analysis and interpretation.Nature communications · 2026Article
- Predicting immune-related thyroiditis using polygenic risk scores in patients with advanced melanoma.Journal for immunotherapy of cancer · 2026Article
- Association and risk prediction of 19 complex diseases with polygenic scores and socioeconomic status.Communications medicine · 2026Article
- Prostate Cancer, Genetic Susceptibility, and Risk of Chronic Non-Urological Complications.The Prostate · 2026Article
- Subclinical neuropsychiatric trait variation in parents of children with autism spectrum disorder: a cohort study.Molecular autism · 2026Article
- Quantifying the utility of type 2 diabetes polygenic risk score for predicting incident diabetes: an analysis of large US-based cohort studies.BMC medical genomics · 2026Article
- Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries.Nature communications · 2026Article
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
- Article
51 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Family history is the standard indirect measure of inherited susceptibility in clinical care, whereas polygenic risk scores (PRSs) have more recently demonstrated potential for more directly capturing genetic risk in many diseases. Few studies have systematically compared how these overlap and complement each other across common diseases. Within FinnGen (N = 306,418), we leverage family relationships, up to 50 years of nationwide registries, and genome-wide genotyping to examine the interplay of family history and genome-wide PRSs. We explore the dynamic for three types of family history across 24 common diseases: first- and second-degree family history and parental causes of death. Covering a large proportion of the burden of non-communicable diseases in adults, we show that family history and PRS are independent and not interchangeable measures, but instead provide complementary information on inherited disease susceptibility. The PRSs explained on average 10% of the effect of first-degree family history, and first-degree family history 3% of PRSs, and PRS effects were independent of both early- and late-onset family history. The PRS stratified the risk similarly in individuals with and without family history. In most diseases, including coronary artery disease, glaucoma, and type 2 diabetes, a positive family history with a high PRS was associated with a considerably elevated risk, whereas a low PRS compensated completely for the risk implied by positive family history. This study provides a catalogue of risk estimates for both family history of disease and PRSs and highlights opportunities for a more comprehensive way of assessing inherited disease risk across common diseases.
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