The heritability of human disease: estimation, uses and abuses.
Abstract
Relatives provide the basic material for the study of inheritance of human disease. However, the methodologies for the estimation of heritability and the interpretation of the results have been controversial. The debate arises from the plethora of methods used, the validity of the methodological assumptions and the inconsistent and sometimes erroneous genetic interpretations made. We will discuss how to estimate disease heritability, how to interpret it, how biases in heritability estimates arise and how heritability relates to other measures of familial disease aggregation.
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The study directly addresses the concern about lack of replication by replicating results across five countries and health systems.
“In addition to providing exceptional statistical power, the study directly addresses the concern of lack of replication in research findings 31,32 replicating results across 5 countries and health systems.”
From Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort (2019) · cites this paper as [32]
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- Authors
- Tenesa, A., & Haley, C. S.
- Affiliations
- Roslin Institute (GB)
- Corresponding author
- Tenesa, Albert
- Venue
- Nature Reviews Genetics
- Published
- 2013-01-18
- Volume
- 14
- Issue
- 2
- Pages
- 139-149
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2040924786
- Cited by
- 283
- References
- 90
- Citations by year
- 2026: 10 · 2025: 13 · 2024: 13 · 2023: 15 · 2022: 20 · 2021: 24 · 2020: 22 · 2019: 30 · 2018: 35 · 2017: 20 · 2016: 23 · 2015: 27 · 2014: 22 · 2013: 9
- FWCI
- 3.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Cancer Research UK (C12229/A13154, 13154)
- Medical Research Council
- Biotechnology and Biological Sciences Research Council (BBS/E/D/20211553, BB/K000195/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- heritability, human disease, heritability estimation, genetic and environmental contributions, phenotypic variance, familial aggregation, relatives
- MeSH terms
- Disease, Environment, Female, Humans, Male, Models, Genetic, Pedigree, Models, Statistical, Bias, Linear Models, Twin Studies as Topic, Genetic Predisposition to Disease, Genetic Association Studies
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