ArticleEuropean journal of human genetics : EJHG2010
Sporadic cases are the norm for complex disease.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 62 papers, 1 of them a synthesis that pooled it.
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Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Evaluating risk for alcohol use disorder: Polygenic risk scores and family history.Alcoholism, clinical and experimental research · 2022Pooled it
- Association between polygenic liability to depression and lifetime depression in at-risk adolescents.Molecular psychiatry · 2026Article
- Tremor pathophysiology.Clinical parkinsonism & related disorders · 2026Review
- Alcohol Use Disorder Polygenic Score Compared With Family History and ADH1B.JAMA network open · 2024Article
- Conceptual frameworks for the integration of genetic and social epidemiology in complex diseases.Global epidemiology · 2024Article
- Correspondence to "Bipolar disorder-iPSC derived neural progenitor cells exhibit dysregulation of store-operated CaMolecular psychiatry · 2024Article
- A Comprehensive Review of Schizophrenia and Antipsychotic Metabolism as a Predictor of Treatment Response.Cureus · 2024Review
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.Genome medicine · 2024Review
- Development and multi-site external validation of a generalizable risk prediction model for bipolar disorder.Translational psychiatry · 2024Observational
- Evaluating the role of common risk variation in the recurrence risk of schizophrenia in multiplex schizophrenia families.Translational psychiatry · 2022Article
- Association between genetic and socioenvironmental risk for schizophrenia during upbringing in a UK longitudinal cohort.Psychological medicine · 2022Article
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.Frontiers in immunology · 2022Review
- A Novel Gene CDC27 Causes SLE and Is Associated With the Disease Activity.Frontiers in immunology · 2022Article
- Evaluation of Disease Complications Among Adults With Type 1 Diabetes and a Family History of Type 2 Diabetes in Taiwan.JAMA network open · 2021Observational
- Discovery and implications of polygenicity of common diseases.Science (New York, N.Y.) · 2021Review
- Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.Molecular psychiatry · 2021Article
- Hyperbolic geometry of gene expression.iScience · 2021Article
- The clinical characterization of the patient with primary psychosis aimed at personalization of management.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2021Article
- Relative contributions of family history and a polygenic risk score on COPD and related outcomes: COPDGene and ECLIPSE studies.BMJ open respiratory research · 2020Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The results of genome-wide association studies have revealed that most human complex diseases (for example, cancer, diabetes and psychiatric disorders) are affected by a large number of variants, each of which explains a small increase in disease risk, suggesting a pattern of polygenic inheritance. At the same time, it has been argued that most complex diseases are genetically heterogeneous because many sporadic cases are observed, as well as cases with a family history. In this study, under the assumption of polygenic inheritance, we derive the expected proportion of sporadic cases using analytical methods and simulation. We show how the proportion of sporadic cases depends on disease prevalence (K) and heritability on the underlying liability scale (h(L)(2)). We predict the underlying heritability and the proportion of sporadic cases for a range of human complex diseases, and show that this proportion is typically large. For a disease with h(L)(2)=63% and K=0.4%, such as schizophrenia, >83% of proband cases are predicted to be sporadic (no affected first-, second- and third-degree relatives) in typical families (on an average, two children per couple). For the majority of these diseases, a large proportion of sporadic cases is expected under the polygenic model, implying that the observed large proportion of sporadic cases is not informative to the causal mechanism of a complex genetic disease.
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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.