Large-scale analysis identifies new genetic alterations associated with height

December 30, 2010

A large collaborative study has added to the growing list of genetic variants that determine how tall a person will be. The research, published by Cell Press on December 30 in the American Journal of Human Genetics, identifies uncommon and previously unknown variants associated with height and might provide insight into the genetic architecture of other complex traits.

Although environmental variables can impact attained adult height, it is clear that height is primarily determined by specific alleles that an individual inherits. Height is thought to be influenced by variants in a large number of genes, and each variant is thought to have only a small impact on height. However, the genetics of height are still not completely understood. "All of the variants needed to explain height have not yet been identified, and it is likely that the additional genetic variants are uncommon in the population or of very small effect, requiring extremely large samples to be confidently identified," explains Dr. Hakon Hakonarson from The Children's Hospital of Philadelphia.

To search for genetic variants associated with adult height, researchers performed a complex of more than 100,000 individuals. "We set out to replicate previous genetic associations with height and to find relevant genomic locations not previously thought to underpin this complex trait" explains Dr. Brendan Keating, also from The Children's Hospital of Philadelphia. The authors report that they identified 64 height-associated variants, two of which would not have been observed without such a large sample size and the inclusion of direct genotyping of uncommon single-nucleotide polymorphisms (SNPs). A SNP is a variation in just one nucleotide of a ; think of it as a spelling change affecting just one letter in an uncommonly long word.

These results suggest that genotyping arrays with SNPs that are relatively rare and occur in less than 5% of the population have the ability to capture new signals and disease variants that the common SNP arrays missed (i.e., 30 new signals in this study), as long as sample sizes are large enough. These low-frequency variants also confer greater effect sizes and, when associated with a disease, could be a lot closer to causative than more common variants. "The increased power to identify variants of small effect afforded by large sample size and dense genetic coverage including low-frequency SNPs within loci of interest has resulted in the identification of association between previously unreported genetic variants and height," concludes Dr. Keating.

Explore further: The importance of gene regulation for common human disease

Related Stories

The importance of gene regulation for common human disease

September 16, 2007

A new study published in Nature Genetics on Sunday 16 September 2007 show that common, complex diseases are more likely to be due to genetic variation in regions that control activity of genes, rather than in the regions ...

Refined tools help pinpoint disease-causing genes

April 29, 2010

In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, say genetics researchers, the ...

Recommended for you

How the finch changes its tune

August 3, 2015

Like top musicians, songbirds train from a young age to weed out errors and trim variability from their songs, ultimately becoming consistent and reliable performers. But as with human musicians, even the best are not machines. ...

Machine Translates Thoughts into Speech in Real Time

December 21, 2009

( -- By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.