Hints of hidden heritability in GWAS
Abstract
Although susceptibility loci identified through genome-wide association studies (GWAS) typically explain only a small proportion of the heritability, a classical quantitative genetic analysis now argues that considering together all common SNPs can explain a large proportion of the heritability of these complex traits. A related study provides recommendations for the sample sizes needed in future GWAS to identify additional susceptibility loci.
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The term infinitesimal here means heritability is hidden below significance thresholds rather than truly missing.
“Here it simply signifies the idea that the heritability is not so much missing, as hidden beneath the significance thresholds used to define risk alleles with high confidence15.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [15]
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- Authors
- Gibson, G.
- Affiliations
- Georgia Institute of Technology (US)
- Corresponding author
- Gibson, Greg
- ORCID
- Gibson, Greg
- Venue
- Nature Genetics
- Published
- 2010-07
- Volume
- 42
- Issue
- 7
- Pages
- 558-560
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1987620105
- Cited by
- 281
- References
- 10
- Citations by year
- 2026: 7 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 12 · 2021: 10 · 2020: 19 · 2019: 13 · 2018: 16 · 2017: 15 · 2016: 23 · 2015: 28 · 2014: 20 · 2013: 34 · 2012: 41
- FWCI
- 18.87
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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 › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- heritability, genome-wide association study, complex traits, genetic susceptibility loci, sample size, quantitative genetics, missing heritability
- MeSH terms
- Body Height, Breast Neoplasms, Crohn Disease, Female, Gene Frequency, Genotype, Humans, Male, Prostatic Neoplasms, Colorectal Neoplasms, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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