@article{d0bd04c4f28c4357a646b8d75cb44fa9,
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.}",
note = "Funding Information: We are grateful to the twins and their families for their generous participation in these studies. We would like to thank staff at the Queensland Institute of Medical Research: D. Statham, A. Eldridge and M. Grace for sample collection, M. Campbell, L. Bowdler, S. Crooks and staff of the Molecular Epidemiology Laboratory for sample processing and preparation, B. Cornes for height data preparation, D. Smyth and H. Beeby for IT support and A. McRae and H. Lee for discussions. We thank N. Wray for helpful comments on the manuscript. We acknowledge funding from the Australian National Health and Medical Research Council (grants 241944, 389875, 389891, 389892, 389938, 442915, 442981, 496739, 496688 and 552485), the US National Institutes of Health (grants AA07535, AA10248, AA014041, AA13320, AA13321, AA13326 and DA12854) and the Australian Research Council (grant DP0770096).",
year = "2010",
month = jul,
doi = "10.1038/ng.608",
language = "English",
volume = "42",
pages = "565--569",
journal = "Nature Genetics",
issn = "1061-4036",
number = "7",
}