Journal ArticleDOI
The heritability of human disease: estimation, uses and abuses
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TLDR
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 are discussed.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.read more
Citations
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Pitfalls of predicting complex traits from SNPs
Naomi R. Wray,Jian Yang,Ben J. Hayes,Ben J. Hayes,Alkes L. Price,Michael E. Goddard,Peter M. Visscher +6 more
TL;DR: Some of the limitations and pitfalls of prediction analysis are discussed and how naive implementations can lead to severe bias and misinterpretation of results are shown.
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TL;DR: Genome-wide genotyping and sequencing studies are providing evidence that psychiatric disorders are truly polygenic, that is they have a genetic architecture of many genetic variants, including risk variants that are both common and rare in the population.
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Heritability of Schizophrenia and Schizophrenia Spectrum Based on the Nationwide Danish Twin Register
Rikke Hilker,Rikke Hilker,Dorte Helenius,Birgitte Fagerlund,Axel Skytthe,Kaare Christensen,Thomas Werge,Merete Nordentoft,Birte Glenthøj +8 more
TL;DR: The estimated 79% heritability of SZ is congruent with previous reports and indicates a substantial genetic risk, and the high genetic risk also applies to a broader phenotype of S Z spectrum disorders.
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Genetic architecture: The shape of the genetic contribution to human traits and disease
TL;DR: The types of genetic architecture that have been observed, how architecture can be measured and why an improved understanding of genetic Architecture is central to future advances in the field are described.
References
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Journal ArticleDOI
Finding the missing heritability of complex diseases
Teri A. Manolio,Francis S. Collins,Nancy J. Cox,David Goldstein,Lucia A. Hindorff,David J. Hunter,Mark I. McCarthy,Erin M. Ramos,Lon R. Cardon,Aravinda Chakravarti,Judy H. Cho,Alan E. Guttmacher,Augustine Kong,Leonid Kruglyak,Leonid Kruglyak,Elaine R. Mardis,Charles N. Rotimi,Montgomery Slatkin,David Valle,Alice S. Whittemore,Michael Boehnke,Andrew G. Clark,Evan E. Eichler,Greg Gibson,Jonathan L. Haines,Trudy F. C. Mackay,Steven A. McCarroll,Peter M. Visscher +27 more
TL;DR: This paper examined potential sources of missing heritability and proposed research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
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