Common SNPs explain a large proportion of the heritability for human height
Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D.R., Madden, P. A., Heath, A. C., Martin, N. G., Montgomery, G. W., Goddard, M. E., & Visscher, P. M. (2010) Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42(7), pp. 565-569.
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.
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|Item Type:||Journal Article|
|Additional Information:||Yang, Jian
McEvoy, Brian P
Henders, Anjali K
Nyholt, Dale R
Madden, Pamela A
Heath, Andrew C
Martin, Nicholas G
Montgomery, Grant W
Goddard, Michael E
Visscher, Peter M
AA014041/AA/NIAAA NIH HHS/
AA07535/AA/NIAAA NIH HHS/
AA10248/AA/NIAAA NIH HHS/
AA13320/AA/NIAAA NIH HHS/
AA13321/AA/NIAAA NIH HHS/
AA13326/AA/NIAAA NIH HHS/
DA12854/DA/NIDA NIH HHS/
R01 AA007535/AA/NIAAA NIH HHS/
R01 AA007535-08/AA/NIAAA NIH HHS/
R01 AA010249/AA/NIAAA NIH HHS/
R01 AA010249-04/AA/NIAAA NIH HHS/
R01 AA013320-04/AA/NIAAA NIH HHS/
R01 AA013321/AA/NIAAA NIH HHS/
R01 AA013321-05/AA/NIAAA NIH HHS/
R01 AA013326-05/AA/NIAAA NIH HHS/
R01 AA014041-05/AA/NIAAA NIH HHS/
R01 DA012854/DA/NIDA NIH HHS/
R01 DA012854-07/DA/NIDA NIH HHS/
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Nat Genet. 2010 Jul;42(7):565-9. doi: 10.1038/ng.608. Epub 2010 Jun 20.
|Keywords:||Adolescent, Adult, Aged, Aged, 80 and over, Algorithms, Body Height/*genetics, Female, Gene Frequency, Genetic Predisposition to Disease/*genetics, Genome, Human, Genome-Wide Association Study/*methods, Genotype, Humans, Linkage Disequilibrium, Logistic Models, Male, Middle Aged, Models, Genetic, *Polymorphism, Single Nucleotide, Young Adult|
|Divisions:||Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
|Copyright Owner:||Copyright 2010 Nature America Inc.|
|Deposited On:||18 Jan 2016 00:36|
|Last Modified:||15 Feb 2016 00:14|
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