ArticleAmerican journal of human genetics2026
The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory.
Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Network analysis of the genetic relationships between twenty psychiatric and substance use disorders.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026Article
- Predicting the geographical distribution of drug use disorder in Sweden from the geographical variation in social deprivation, genetic risk and urbanization.Molecular psychiatry · 2026Article
- The impact of alcohol use disorder and PTSD comorbidity on risk of suicide attempt.Social psychiatry and psychiatric epidemiology · 2026Article
- Elucidating psychosocial outcome profiles as a function of aggregate genetic risk for suicide attempt and alcohol use disorder.Translational psychiatry · 2026Article
- Polygenic scores in psychiatric research and clinical practice.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- LT-FGRS: a unifying R-package for the estimation of family-based genetic liabilities at population-scale.bioRxiv : the preprint server for biology · 2026Article
- Familial genetic risk for posttraumatic stress disorder: Associations with clinical features.Journal of traumatic stress · 2026Article
- The typology of common psychiatric disorders as depicted by genetic maps: a study based on Swedish population-based registers.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026Article
- The relationship in women between genetic liability and the risk of onset of alcohol use disorder while pregnant or rearing an infant, toddler, or preschool child.Molecular psychiatry · 2026Article
- Genetic influences on suicide attempt in adolescence: Evaluating mediation by impulsivity and painful and provocative events.JCPP advances · 2026Article
- Delineating trajectories of alcohol consumption and alcohol problems from adolescence to young adulthood: An integrated assessment of genetic, familial, and psychosocial factors.Alcohol, clinical & experimental research · 2025Article
- Estimating disorder probability based on polygenic prediction using the BPC approach.Nature communications · 2025Article
- Profiles of Genetic Risks for Psychotic Disorders.JAMA psychiatry · 2025Article
- Exploring the implications of case selection methods for psychiatric molecular genetic studies.Molecular psychiatry · 2025Article
- The relationship between parenting behavior, suicidal ideation, and suicide attempt across two population-based samples of adolescents.Journal of affective disorders · 2025Article
- The outcome of major psychiatric and substance use disorders as an index of genetic risk and genetic heterogeneity.Psychological medicine · 2025Article
- The moderation of genetic risk for ten major psychiatric and substance use disorders by the genetic aptitude for educational attainment.Molecular psychiatry · 2025Article
- The Prediction of Diagnostic Change From Bipolar Disorder to Schizophrenia and Schizophrenia to Bipolar Disorder in a Population-Based, Longitudinal, National Swedish Sample.Schizophrenia bulletin · 2025Article
- Deep learning-based polygenic scores enhance generalizability of psychiatric disorders prediction.medRxiv : the preprint server for health sciences · 2025Article
- Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.Molecular psychiatry · 2025Review
Corrections and comments
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Authors and funding
19 authors.
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Abstract
Genetics as a science has roots in studying phenotypes of relatives, but molecular approaches facilitate direct measurements of genomic variation between individuals. Agricultural and human biomedical research are both emphasizing genotype-based instruments, such as polygenic scores, but unlike in agriculture, there is an emerging consensus that family variables act nearly independently of genotypes in models of human disease. However, there is insufficient theoretical treatment of these scores, especially guiding our understanding of how and why scores derived from different sources of data may combine. To advance our understanding of this phenomenon, we use 2,066,057 family records of 99,645 genotyped probands from the Integrative Psychiatric Research (iPSYCH)2015 case-cohort study to show that state-of-the-field genotype- and phenotype-based genetic instruments explain largely independent components of liability to psychiatric disorders. We support these empirical results with theoretical analysis and simulations to describe, in a human biomedical context, parameters affecting current and future performance of the two approaches, their expected interrelationships, and consistency of observed results with expectations under simple additive, polygenic liability models of disease. We conclude, at least for psychiatric disorders, that the low correlation between current phenotype- and genotype-based genetic instruments is caused by both being noisy measures of additive genetic liability. We expect they should remain complementary over the near future and therefore expect approaches integrating both sources of information to achieve more power for genetic inference.
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