Abstract
Adult human height is one of the classical complex human traits1. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians2 and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses3,4,5, and the strongest association was with SNPs in the ZBTB38 gene.
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D.F.G., G.B.W., G.T., H.S., P.S. and K.S. wrote the first draft of the paper. G.B.W., S.T., E.J.O., G.H.O., T. Jonsson, L.T. and T.R. participated in the collection of Icelandic data. V.S., K.B.-J., T.H., G.A., T. Jorgensen and O.P. collected the Danish data. K.K.A., J.A.W., D.W.S., M.H., B.F., A.L.M.V. and L.A.K. collected the Dutch data. D.M.B., L.R.Y. and L.C.B. collected the US data. D.F.G., G.T., H.S., B.V.H., P.Z., P.S., A.G., S.S. and A.I. analyzed the data. G.B.W., A.H. and U.T. carried out the genotyping. D.F.G., J.G., A.K., U.T. and K.S. planned and supervised the work. All authors contributed to the final version of the paper.
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Gudbjartsson, D., Walters, G., Thorleifsson, G. et al. Many sequence variants affecting diversity of adult human height. Nat Genet 40, 609–615 (2008). https://doi.org/10.1038/ng.122
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DOI: https://doi.org/10.1038/ng.122
