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

Jian Yang, Beben Benyamin, Brian P. McEvoy, Scott Gordon, Anjali K. Henders, Dale R. Nyholt, Pamela A. Madden, Andrew C. Heath, Nicholas G. Martin, Grant W. Montgomery, Michael E. Goddard, Peter M. Visscher

Research output: Contribution to journalArticle

2134 Citations (Scopus)

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.

LanguageEnglish
Pages565-569
Number of pages5
JournalNature Genetics
Volume42
Issue number7
DOIs
Publication statusPublished - 1 Jul 2010

ASJC Scopus subject areas

  • Genetics

Cite this

Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., ... Visscher, P. M. (2010). Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42(7), 565-569. https://doi.org/10.1038/ng.608
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. / Common SNPs explain a large proportion of the heritability for human height. In: Nature Genetics. 2010 ; Vol. 42, No. 7. pp. 565-569.
@article{b1dc5b3a0ed447589a79e9e9cc0d4c6c,
title = "Common SNPs explain a large proportion of the heritability for human height",
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.",
author = "Jian Yang and Beben Benyamin and McEvoy, {Brian P.} and Scott Gordon and Henders, {Anjali K.} and Nyholt, {Dale R.} and Madden, {Pamela A.} and Heath, {Andrew C.} and Martin, {Nicholas G.} and Montgomery, {Grant W.} and Goddard, {Michael E.} and Visscher, {Peter M.}",
year = "2010",
month = "7",
day = "1",
doi = "10.1038/ng.608",
language = "English",
volume = "42",
pages = "565--569",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "7",

}

Yang, J, Benyamin, B, McEvoy, BP, Gordon, S, Henders, AK, Nyholt, DR, Madden, PA, Heath, AC, Martin, NG, Montgomery, GW, Goddard, ME & Visscher, PM 2010, 'Common SNPs explain a large proportion of the heritability for human height', Nature Genetics, vol. 42, no. 7, pp. 565-569. https://doi.org/10.1038/ng.608

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.; Visscher, Peter M.

In: Nature Genetics, Vol. 42, No. 7, 01.07.2010, p. 565-569.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Common SNPs explain a large proportion of the heritability for human height

AU - Yang, Jian

AU - Benyamin, Beben

AU - McEvoy, Brian P.

AU - Gordon, Scott

AU - Henders, Anjali K.

AU - Nyholt, Dale R.

AU - Madden, Pamela A.

AU - Heath, Andrew C.

AU - Martin, Nicholas G.

AU - Montgomery, Grant W.

AU - Goddard, Michael E.

AU - Visscher, Peter M.

PY - 2010/7/1

Y1 - 2010/7/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=77954140531&partnerID=8YFLogxK

U2 - 10.1038/ng.608

DO - 10.1038/ng.608

M3 - Article

VL - 42

SP - 565

EP - 569

JO - Nature Genetics

T2 - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 7

ER -

Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, Nyholt DR et al. Common SNPs explain a large proportion of the heritability for human height. Nature Genetics. 2010 Jul 1;42(7):565-569. https://doi.org/10.1038/ng.608