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Chunk #42 — Discussion

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A saturated map of common genetic variants associated with human height.
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By increasing our experimental sample size to more than seven times that of previous studies, we have explained up to 40% of the inter-individual variation in height in independent European-ancestry samples using GWS SNPs alone, and more than 90% of \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$${h}_{{\rm{SNP}}}^{2}$$\end{document}hSNP2 across diverse populations when incorporating all common SNPs within 35 kb of GWS SNPs. This result highlights that future investigations of common (MAF > 1%) genetic variation associated with height in many ancestries will be most likely to detect signals within the 7,209 GWS loci that we have identified in the present study. A question for the future is whether rare genetic variants associated with height are also concentrated within the same loci. We provide suggestive evidence supporting this hypothesis from analysing imputed SNPs with 0.1% < MAF < 1% (Supplementary Note 6, Extended Data Fig. 10 and Supplementary Fig. 25). Our results are consistent with findings from a previous study45, which showed across 492 traits a strong colocalization between common and rare coding variants associated with the same trait.