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Nat Genet. 2010 Jul;42(7):565-9. doi: 10.1038/ng.608. Epub 2010 Jun 20.

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

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  • 1Queensland Institute of Medical Research, Brisbane, Queensland, Australia.

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.

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PMID:
20562875
[PubMed - indexed for MEDLINE]
PMCID:
PMC3232052
Free PMC Article

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