We have identified a large number of gene sets and pathways that are enriched for associations with height. Although the number of gene sets and pathways is large, many are overlapping and likely represent multiple annotations of a much smaller set of core biological mechanisms. We also highlight individual genes within associated loci as being relevant to skeletal growth, including candidates for contributing to syndromes of abnormal skeletal growth; for example, we strongly implicated CHSY1, recently identified as an underlying cause of a monogenic syndrome with short stature and brachydactyly17,18. The lists of prioritized genes and pathways should therefore provide a rich trove of data for future studies of skeletal growth; to facilitate such studies, we have made our results (including genome-wide association results and complete list of highlighted genes and pathways) publicly available. Based on the results of large genetic studies of height, we anticipate that increasing the number of associated loci for other traits and diseases could yield similarly rich lists that would generate new biological hypotheses and motivate future research into the basis of human biology and disease.
