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First common gene for height identified

3 September 2007

Whilst we all know that tall parents are more likely to have tall children, until now none of the genes responsible for height has been uncovered. Now, scientists have identified a gene called HMGA2, a common variant of which directly influences height.

Using data from the Wellcome Trust Case Control Consortium, the largest study ever undertaken into the genetics underlying common diseases, and the Diabetes Genetics Initiative, in the US, a team of scientists examined DNA samples from 5,000 people.

They discovered a link between variations in the HMGA2 gene and height that suggests it makes some people taller than others.

The research was led by Dr Tim Frayling from the Peninsula Medical School, Exeter, Professor Mark McCarthy from the University of Oxford and Dr Joel Hirschhorn from the Broad Institute of Harvard and MIT in Cambridge, US. The results are published online in Nature Genetics.

Dr Frayling believes that the study has major implications for helping scientists understand how common variations in human DNA actually affect us, especially in relation to growth and development.

The difference in height between a person carrying two copies of the variant and a person carrying no copies is just under 1cm, so HMGA2 alone cannot explain the wide range of heights found in a population. However, the researchers believe the findings may still prove important.

"Height is a typical 'polygenic trait' – in other words, many genes contribute towards making us taller or shorter," explains Dr Frayling. "Clearly, our results do not explain why one person will be 6'5" and another only 4'10". This is just the first of many genes that will be found – possibly as many as several hundred."

The exact role that HMGA2 has in growth is unclear, but the researchers believe it is likely to be involved in increased cell production. This may have implications for the development of cancer as tumours occur due to unregulated cell growth. Previous studies have shown that taller people are statistically more likely to be at risk from cancers, including those found in the prostate, bladder and lung.

"There appears to be a definite correlation between height and some diseases," explains Dr Mike Weedon, lead author on the study. "For example, there are associations between shortness and slightly increased risks of conditions such as heart disease. Similarly, tall people are more at risk from certain cancers and possibly osteoporosis."
"Even though improved nutrition means that each generation is getting successively taller, variation in height within a population is almost entirely influenced by our genes," says Dr Frayling. "This fact, coupled with the ease of measuring height, means that height can act as a model trait, allowing us to explore the influence that the genome actually has on our general make-up, not just disease risk."

The research was funded by the Wellcome Trust with support from Diabetes UK, and the Medical Research Council.

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