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PMID: 20479774 Published · ppublish English Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Missing heritability and strategies for finding the underlying causes of complex disease.

Nature reviews. Genetics ·Vol. 11 ·No. 6 ·2010-00-00 ·Pages 446-50

Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH

Abstract

Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the heritability of most complex traits, and the variants identified through these studies have small effect sizes. This has led to the important and hotly debated issue of where the 'missing heritability' of complex diseases might be found. Here, seven leading geneticists offer their opinion about where this heritability is likely to lie, 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.

MeSH Terms
Disease/etiology,genetics Genetic Predisposition to Disease/epidemiology,genetics Genome-Wide Association Study/methods,standards Genotype Humans Inheritance Patterns/genetics Phenotype Polymorphism, Genetic/physiology Quantitative Trait, Heritable Research Design/standards
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Eichler Evan E
Department of Genome Sciences, University of Washington, Seattle, Washington 98195-5065, USA. eee@gs.washington.edu
Flint Jonathan
Gibson Greg
Kong Augustine
Leal Suzanne M
Moore Jason H
Nadeau Joseph H
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Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
DOI
10.1038/nrg2809
Email
eee@gs.washington.edu
Published
2010-00-00
Pages
446-50
Language
English
Region
England
NLM ID
100962779
PMCID
PMC2942068
Subset
IM
Grants
Howard Hughes Medical Institute · United States
NIAID NIH HHS · R01 AI059694-06 · United States
NHGRI NIH HHS · T15 HG000016 · United States
Wellcome Trust · United Kingdom
NLM NIH HHS · R01 LM010098-01 · United States
NLM NIH HHS · R01S LM009012 · United States
NLM NIH HHS · LM010098 · United States
NHGRI NIH HHS · T15 HG000016-10S1 · United States
NIAID NIH HHS · AI59694 · United States
NHGRI NIH HHS · T15 HG000016-11A1 · United States
NLM NIH HHS · R01 LM010098 · United States
NLM NIH HHS · R01 LM009012-04 · United States
NIAID NIH HHS · R01 AI059694 · United States
NLM NIH HHS · R01 LM009012 · United States
Corrections
CommentIn
PMID: 20634812
CommentIn
PMID: 20634813
CommentIn
PMID: 20940739
External Links
PubMed source DOI: 10.1038/nrg2809 PMC Full Text View journal details
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