Common genetic variants influencing adult height

Scientists have discovered dozens of common genetic variants influencing adult human height.

Recently, two independent studies reported that common variants near two genes, HMGA2 and GDF5, are associated with variation in human height in the general population. Using substantially larger sample sizes, three groups now report the discovery of dozens of additional variants influencing adult height.

The newly discovered variants explain up to 4% of normal height variation in populations of European ancestry. Individuals carrying predominantly ‘tall’ versions of these variants are, on average, 5 cm taller than individuals carrying only a few of the ‘tall’ variants.

Many of the height-associated variants reside near genes known or suspected to have a role in skeletal development. Others reside near genes that control how cells grow and divide.

Height is considered a classic complex trait with a strong heritable component. Therefore, understanding the genetic basis of this model trait may shed light on the genetic architecture of other traits, including those influencing risk of common diseases.

Author contacts:

Timothy Frayling (Peninsula Medical School, Exeter, UK)
Tel: +44 1392 262935; E-mail: tim.frayling@pms.ac.uk

Kari Stefansson (deCODE Genetics, Reykjavik, Iceland)
Tel: +354 570 1900; E-mail: kstefans@decode.is

Joel Hirschhorn (Broad Institute of Harvard and MIT, Cambridge, MA, USA)
Tel: +1 617 919 2129; E-mail: joelh@broad.mit.edu