83 new genetic variants that strongly influence human height have been discovered in a study led by Queen Mary University of London (QMUL), Montreal Heart Institute, The Broad Institute and the University of Exeter.
The research, which is published in Nature, is the largest genetic study of adult height to date, with the international team of researchers analysing DNA from over 700,000 participants across the globe to determine why people have different heights.
Adult height is mostly determined by the information encoded in our DNA - children from tall parents tend to be taller, and those from short parents are shorter. But growth from a small baby into an adult, and the role of genetics, is one of the most poorly understood areas of human biology.
Hundreds of DNA changes that influence height have already been identified, but these common DNA changes often influence height by less than 1 mm. In this new study, the scientists found new DNA changes that led to differences in height of up to 2 cm - over 10 times the average effect of previously discovered gene variants.
Senior co-lead author Professor Panos Deloukas from QMUL said: "The new genetic variants we found are rare in the population but their large effects on human height have revealed important new insights into human skeletal growth. The identified genes will be helpful in predicting a person's risk of developing certain growth disorders. There is also the hope that we may one day be able to use this knowledge to develop a precision medicine approach for dealing with growth disorders."
Dr Andrew R Wood, co-lead analyst in the study at the University of Exeter said: "Our latest discovery means that we can now explain over a quarter of the heritable factors involved in influencing a person's height. How the body grows from a 40-50 cm baby into a perfectly proportioned adult three to four times the size, and how this occurs such that some of us end up being over half a metre taller than others, is a fascinating but poorly understood aspect of biology."
Many of the new DNA changes are located in genes implicated in growth or bone biology, but many also highlight new biological processes that modulate height in humans.
The researchers looked in more detail at two of the changes found in a gene called STC2. Only 1 person in 1,000 carries one of these genetic variants, but those who do are 1-2 cm taller.
Further investigations by researchers at Aarhus University, Denmark, suggested that these variants modulate height by interfering with the availability of growth factors in the blood. Studying STC2 may therefore yield new insights into therapeutic strategies to treat growth failure, which affects 3-5 per cent of all children.
Professor Guillaume Lettre at Université de Montréal and the Montreal Heart Institute added: "In our study, we used adult height as a simple observable physical trait to understand how information in our DNA can explain how we are all different. The idea was that if we could understand the genetics of human height, we could then apply this knowledge to develop genetic tools to predict other traits or the risk of developing common diseases."
The study was carried out using data from UK Biobank - one of the world's largest health studies. It includes extensive information on demographic and lifestyle factors, and the genetic make-up of the 500,000 men and women enrolled in the study. Participants are being followed up over the long term to allow scientists to study a wide range of diseases, including dementia, arthritis, cancer, heart attacks and stroke.
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For more information, please contact:
Joel Winston
Public Relations Manager, Queen Mary University of London
E-mail: j.winston@qmul.ac.uk
Tel.: +44 (0)207 882 7943
Mobile: +44 (0)7970 096 188
Notes to the editor
* Study participants included those from the UK, Canada, USA, The Netherlands, Denmark, Germany, Switzerland, Iceland, France, Greece, Italy, Australia, Sweden, Finland, Norway, Austria, South Africa, China, Taiwan, Saudi Arabia, Singapore and Pakistan.
* UK Biobank was established by the Wellcome Trust, Medical Research Council, Department of Health and Scottish Government and has also received funding from the Welsh Assembly Government, British Heart Foundation and Diabetes UK.
* Research paper: 'Rare and low-frequency coding variants alter human adult height'. Marouli et al. Nature. Doi 10.1038/nature21039. Research paper will appear here: http://dx.doi.org/10.1038/nature21039
About Queen Mary University of London
Queen Mary University of London (QMUL) is one of the UK's leading universities, and one of the largest institutions in the University of London, with 21,187 students from more than 155 countries.
A member of the Russell Group, we work across the humanities and social sciences, medicine and dentistry, and science and engineering, with inspirational teaching directly informed by our research. In the most recent national assessment of the quality of research, we were placed ninth in the UK (REF 2014).
As well as our main site at Mile End - which is home to one of the largest self-contained residential campuses in London - we have campuses at Whitechapel, Charterhouse Square, and West Smithfield dedicated to the study of medicine, and a base for legal studies at Lincoln's Inn Fields.
We have a rich history in London with roots in Europe's first public hospital, St Barts; England's first medical school, The London; one of the first colleges to provide higher education to women, Westfield College; and the Victorian philanthropic project, the People's Palace at Mile End.
Today, as well as retaining these close connections to our local community, we are known for our international collaborations in both teaching and research.
QMUL has an annual turnover of £350m, a research income worth £125m (2014/15), and generates employment and output worth £700m to the UK economy each year.
Journal
Nature