A tall story: New research adds to growing body of knowledge of genetics of height
7 April 2008
A team of researchers who last year identified the first common version of a gene influencing height has now identified a further 20 regions of the genome, which together can make a height difference of up to 6 cm.
The results, published together with two independent studies online today in the journal 'Nature Genetics', mean that scientists now know of dozens of genes and genetic regions that influence our height. This provides scientists with a fascinating insight into how the body grows and develops normally, and may shed light on diseases such as osteoarthritis and cancer.
Unlike a number of other body size characteristics such as obesity, which is caused by a mix of genetic and environmental factors (so called 'nature and nurture'), 90 per cent of normal variation in human height is due to genetic factors rather than, for example, diet. Last year, a team of researchers including Dr Tim Frayling from the Peninsula Medical School, Exeter, and Professor Mark McCarthy from the University of Oxford identified the first common gene variant to affect height, though it made a difference of only 0.5 cm.
Now, using DNA samples from over 30 000 people, many taken from the Wellcome Trust Case Control Consortium - the largest study ever undertaken into the genetics underlying common diseases - and from the Cambridge Genetics of Energy Metabolism (GEM) consortium and the CoLaus Study in Switzerland, the researchers have identified 20 loci (regions of genetic code), common variations of which influence adult height.
"The number and variety of genetic regions that we have found show that height is not just caused by a few genes operating in the long bones", says Dr Frayling. "Instead, our research implicates genes that could shed light on a whole range of important biological processes.
"By identifying which genes affect normal growth, we can begin to understand the processes that lead to abnormal growth - not just height disorders but also tumour growth, for example."
Half of the new loci identified by Dr Frayling and colleagues contain genes whose functions are well documented. Some help regulate basic cell division, which may have implications for cancer research: unregulated cell division can lead to the growth of tumours. Other genes are implicated in cell-to-cell signalling, an important process in the early development of embryos in the womb. Yet others are so-called 'master regulators', acting as switches to turn genes elsewhere in the genome on or off.
One locus in particular is also implicated in osteoarthritis, the most common form of arthritis involving the effects of wear and tear on the body's structures. This locus reinforces a similar link identified by a previous study, and may be involved in the growth of cartilage.
However, of the 20 loci identified by Dr Frayling and colleagues, half contain genes about which little or nothing is known. The researchers compared these findings to their work last year, which identified the first common gene for obesity, the FTO gene. Even though the gene has been shown without a doubt to influence body size, its role is still unclear.
"There may be more than 100 genes that affect our height, many of which will work in surprising or unpredictable ways", says Dr Mike Weedon, lead author on the paper. "The challenge now for us is to understand how they influence growth in the body. This could open up new avenues for treating a range of diseases."
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Notes for editors
1. Weedon M et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics, published in advance online 6 April 2008.
2. The research was supported by: the British Heart Foundation, Diabetes UK, the Giorgi-Cavaglieri Foundation, the Medical Research Council, National Health Service Research and Development, Nuffield Department of Medicine, the Swiss National Science Foundation, the Wellcome Trust and the Vandervell Foundation.
3. The Wellcome Trust is the largest charity in the UK. It funds innovative biomedical research, in the UK and internationally, spending around £650 million each year to support the brightest scientists with the best ideas. The Wellcome Trust supports public debate about biomedical research and its impact on health and wellbeing.
4. The Peninsula College of Medicine and Dentistry is the overarching entity for the Peninsula Medical School and the Peninsula Dental School. It is a joint entity of the Universities of Exeter and Plymouth. The first cohort of medical students joined in 2002. The first cohort of dental students began studies in September last year. As well as teaching the doctors and dentists of tomorrow, the Peninsula College of Medicine and Dentistry undertakes a wide range of nationally and internationally recognised research in areas such as diabetes, cancer, heart disease, pulmonary disease, chronic fatigue syndrome/ME, MS, complementary therapies, genetics, vascular cell biology, childhood obesity and endocrinology.
5. Oxford University's Medical Sciences Division is one of the largest biomedical research centres in Europe. It represents almost one-third of Oxford University's income and expenditure, and two-thirds of its external research income. Oxford's world-renowned global health programme is a leader in the fight against infectious diseases (such as malaria, HIV/AIDS, tuberculosis and avian flu) and other prevalent diseases (such as cancer, stroke, heart disease and diabetes). Key to its success is a long-standing network of dedicated Wellcome Trust-funded research units in Asia (Thailand, Laos and Vietnam) and Kenya, and work at the MRC Unit in The Gambia. Long-term studies of patients around the world are supported by basic science at Oxford and have led to many exciting developments, including potential vaccines for tuberculosis, malaria and HIV, which are in clinical trials.
6. The Wellcome Trust Case Control Consortium, the largest ever study of the genetics behind common diseases such as diabetes, rheumatoid arthritis and coronary heart disease, published its results in the journals 'Nature' and 'Nature Genetics' on 6 June 2007.
The £9 million study was one of the UK's largest and most successful academic collaborations to date. It examined DNA samples from 17 000 people across the UK, bringing together 50 leading research groups and 200 scientists in the field of human genetics from dozens of UK institutions. Over two years, they analysed almost 10 billion pieces of genetic information.