ArticleEuropean journal of human genetics : EJHG2012
Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 3 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- A call for greater diversity and representativeness within countries in psychiatric research: lessons and challenges from a systematic review of schizophrenia research in Brazil.Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) · 2025Pooled it
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.Nature genetics · 2018Pooled it
- The Association between HMGA1 rs146052672 Variant and Type 2 Diabetes: A Transethnic Meta-Analysis.PloS one · 2015Pooled it
- Establishment of Definitions and Review Process for Consistent Adjudication of Cause-specific Mortality after Allogeneic Unrelated-donor Hematopoietic Cell Transplantation.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2015Trial
- Clinical trajectories and genetic architecture across the neurological-psychiatric boundary.medRxiv : the preprint server for health sciences · 2026Article
- A new era of genome-wide association studies in the field of Alzheimer's disease and overlapping co-pathologies: lessons learned from a neuropathology-centered approach.Acta neuropathologica · 2026Review
- Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Characterisation of serious mental illness trajectories through transdiagnostic clinical features.The British journal of psychiatry : the journal of mental science · 2026Article
- The predicament of heritable confounders.Nature genetics · 2026Review
- Article
- Genomics of schizophrenia, bipolar disorder and major depressive disorder.Nature reviews. Genetics · 2025Review
- 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
- Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.Molecular psychiatry · 2025Review
- Uncovering the heritable components of multimorbidities and disease trajectories using a nationwide cohort.Nature communications · 2024Article
- Genomic SEM applied to explore etiological divergences in bipolar subtypes.Psychological medicine · 2024Article
- Structural models of genome-wide covariance identify multiple common dimensions in autism.Nature communications · 2024Article
- Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder.Nature genetics · 2024Article
- Clarifying the causes of consistent and inconsistent findings in genetics.Genetic epidemiology · 2022Review
- Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease.Annals of clinical and translational neurology · 2022Article
- Characterizing mood disorders in the AFFECT study: a large, longitudinal, and phenotypically rich genetic cohort in the US.Translational psychiatry · 2022Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders that share genetic risk factors often are placed in closely related diagnostic categories and treated similarly. Until recently, evidence for shared genetic etiology derived from classical research strategies--coaggregation in family and twin studies. Accumulating sufficient numbers of families was often problematic. However, in the era of genome-wide genotyping, we can now directly estimate the degree of sharing of genetic risk factors between disorders. This strategy is practical even for very rare disorders, where it is infeasible to ascertain informative families. Importantly, the estimates of genetic correlations from genome-wide genotypes are derived using such distant relatives that contamination by shared environmental factors seems unlikely. However, any method that seeks to quantify the shared etiology of disorders assumes they can be distinguished diagnostically from one another without error. Here we investigate the impact of misdiagnosis on estimates of genetic correlation both from traditional family data and from genome-wide genotypes of case-control samples from unrelated individuals. Our analyses show similar results for levels of misdiagnosis in both types of data. In both scenarios, genetic variances and heritabilities tend to be slightly underestimated but genetic correlations are overestimated, sometimes substantially so. For example, two genetically distinct but equally heritable disorders each with prevalence 1%, can generate false-positive estimates of genetic correlations of >0.2 in the presence of 10% reciprocal misdiagnosis. Strategies for minimizing the effects of misdiagnosis in cross-disorder genetic studies are discussed.
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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.