Common SNPs explain a large proportion of the heritability for human height

Yang, Jian, Benyamin, Beben, McEvoy, Brian P., Gordon, Scott, Henders, Anjali K., Nyholt, Dale R., Madden, Pamela A., Heath, Andrew C., Martin, Nicholas G., Montgomery, Grant W., Goddard, Michael E. and Visscher, Peter M. (2010) Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42 7: 565-569. doi:10.1038/ng.608

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Author Yang, Jian
Benyamin, Beben
McEvoy, Brian P.
Gordon, Scott
Henders, Anjali K.
Nyholt, Dale R.
Madden, Pamela A.
Heath, Andrew C.
Martin, Nicholas G.
Montgomery, Grant W.
Goddard, Michael E.
Visscher, Peter M.
Title Common SNPs explain a large proportion of the heritability for human height
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2010-07-01
Year available 2010
Sub-type Article (original research)
DOI 10.1038/ng.608
Open Access Status DOI
Volume 42
Issue 7
Start page 565
End page 569
Total pages 5
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Group
Language eng
Abstract SNPs discovered by genome-wide association studies (GWASs) account for only a small fraction of the genetic variation of complex traits in human populations. Where is the remaining heritability? We estimated the proportion of variance for human height explained by 294,831 SNPs genotyped on 3,925 unrelated individuals using a linear model analysis, and validated the estimation method with simulations based on the observed genotype data. We show that 45% of variance can be explained by considering all SNPs simultaneously. Thus, most of the heritability is not missing but has not previously been detected because the individual effects are too small to pass stringent significance tests. We provide evidence that the remaining heritability is due to incomplete linkage disequilibrium between causal variants and genotyped SNPs, exacerbated by causal variants having lower minor allele frequency than the SNPs explored to date. © 2010 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
Keyword Genome-wide association
Missing heritability
Artificial selection
Complex diseases
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 241944
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 1614 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 1678 times in Scopus Article | Citations
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Created: Wed, 30 Mar 2011, 01:32:45 EST by Debbie Banks on behalf of School of Medicine