Many sequence variants affecting diversity of adult human height

Nat Genet. 2008 May;40(5):609-15. doi: 10.1038/ng.122. Epub 2008 Apr 6.


Adult human height is one of the classical complex human traits. 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 Scandinavians 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 analyses, and the strongest association was with SNPs in the ZBTB38 gene.

MeSH terms

  • Adult
  • Body Height / genetics*
  • Bone Development / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Gene Frequency
  • Genetic Linkage*
  • Genome, Human*
  • Humans
  • Male
  • Mitosis / genetics
  • Polymorphism, Single Nucleotide*
  • Repressor Proteins / genetics


  • DNA-Binding Proteins
  • Repressor Proteins
  • ZBTB38 protein, human