Meta-analysis of the heritability of human traits based on fifty years of twin studies

@article{Polderman2015MetaanalysisOT,
  title={Meta-analysis of the heritability of human traits based on fifty years of twin studies},
  author={Tinca J. C. Polderman and Beben Benyamin and Christiaan A. de Leeuw and Patrick F. Sullivan and Arjen van Bochoven and Peter M. Visscher and Danielle Posthuma},
  journal={Nature Genetics},
  year={2015},
  volume={47},
  pages={702-709}
}
Despite a century of research on complex traits in humans, the relative importance and specific nature of the influences of genes and environment on human traits remain controversial. [...] Key Method We report a meta-analysis of twin correlations and reported variance components for 17,804 traits from 2,748 publications including 14,558,903 partly dependent twin pairs, virtually all published twin studies of complex traits. Estimates of heritability cluster strongly within functional domains, and across all…Expand

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References

SHOWING 1-10 OF 42 REFERENCES
Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics
TLDR
This review focuses primarily on the ways in which genome-wide association studies (GWASs) have revolutionized the field of human quantitative genetics.
Data and Theory Point to Mainly Additive Genetic Variance for Complex Traits
TLDR
It is concluded that interactions at thelevel of genes are not likely to generate much interaction at the level of variance, and that additive variance typically accounts for over half, and often close to 100%, of the total genetic variance.
The mystery of missing heritability: Genetic interactions create phantom heritability
TLDR
It is shown here that a substantial portion of missing heritability could arise from overestimation of the denominator, creating “phantom heritability,” and a method for estimating heritability from isolated populations that is not inflated by genetic interactions is described.
The authorship network of genome-wide association studies
TLDR
This work used the NHGRI GWAS catalog1 and PubMed to identify the authors on 604 GWAS published from the first report in 2005 up to the last complete year (2010), and constructed network diagrams – graphs – where nodes are authors and edges connect co-authors on a GWAS paper.
Missing heritability and strategies for finding the underlying causes of complex disease
TLDR
Seven leading geneticists offer their opinion about where the 'missing heritability' of complex diseases might be found, what this could tell us about the underlying genetic architecture of common diseases and how this could inform research strategies for uncovering genetic risk factors.
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.
Five years of GWAS discovery.
TLDR
This work starts by giving a number of quotes from scientists and journalists about perceived problems with genome-wide association studies, and focuses on the results for auto-immune diseases and metabolic diseases.
An Extension of the Concept of Partitioning Hereditary Variance for Analysis of Covariances among Relatives When Epistasis Is Present.
TLDR
The present paper shows the subdivision of the epistatic variance into components and gives the distribution of these epistatic components in the covariances or correlations between relatives.
Inter-locus interactions: a review of experimental evidence.
  • J. Barker
  • Biology, Medicine
    Theoretical population biology
  • 1979
TLDR
Evidence in population genetic studies has come from studies of linkage disequilibrium and co-adaptation in natural populations, and of multilocus fitness estimation and linkage diseQUilibrium and associative overdominance in experimental populations.
The inheritance of liability to certain diseases, estimated from the incidence among relatives
TLDR
The purpose of this paper is to suggest that the method developed in quantitative genetics for dealing with ‘threshold characters ’ is applicable to data on the incidence of diseases, and that by its use the authors can get further towards an answer to the question of the relative importance of heredity and environment.
...
1
2
3
4
5
...