Abstract
Adult height is a model polygenic trait, but there has been limited success in identifying the genes underlying its normal variation. To identify genetic variants influencing adult human height, we used genome-wide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. We identified 20 variants associated with adult height ( P < 5 x 10(-7), with 10 reaching P < 1 iota x 10(-10)). Combined, the 20 SNPs explain similar to 3% of height variation, with a similar to 5 cm difference between the 6.2% of people with iota 7 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. The loci we identified implicate genes in Hedgehog signaling ( IHH, HHIP, PTCH1), extracellular matrix ( EFEMP1, ADAMTSL3, ACAN) and cancer ( CDK6, HMGA2, DLEU7) pathways, and provide new insights into human growth and developmental processes. Finally, our results provide insights into the genetic architecture of a classic quantitative trait.