Using height association studies to gain insights into human idiopathic short and syndromic stature phenotypes

Pediatr Nephrol. 2013 Apr;28(4):557-62. doi: 10.1007/s00467-012-2301-y. Epub 2012 Sep 2.


Variation in adult height is not the most clinically relevant human quantitative trait, yet its study provides the foundation of many quantitative genetics theories and important statistical concepts (e.g. regression). Even today, the analysis of adult height by genome-wide association studies (GWAS) continues to significantly impact human genetics: these studies have led to the discovery of >200 loci associated with variation in adult height and have highlighted the very polygenic nature of human continuous traits. In this brief review, I discuss and provide examples on how such genetic associations, identified in individuals of normal height, could help understand the complex genetics behind such phenotypes as idiopathic short stature (ISS) or extreme/syndromic height phenotypes of unknown cause.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Body Height / genetics*
  • Child
  • Child Development*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study
  • Growth Disorders / genetics*
  • Growth Disorders / physiopathology*
  • Humans
  • Phenotype
  • Quantitative Trait, Heritable
  • Risk Factors
  • Syndrome
  • Young Adult