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Scientists identify first genetic variant linked to biological aging in humans

Discovery has important implications for the understanding of cancer and age associated diseases

Scientists announced today (7 Feb) they have identified for the first time definitive variants associated with biological ageing in humans. The team analyzed more than 500,000 genetic variations across the entire human genome to identify the variants which are located near a gene called TERC.

The study in Nature Genetics published today by researchers from the University of Leicester and King's College London, working with University of Groningen in the Netherlands, was funded by The Wellcome Trust and the British Heart Foundation.

British Heart Foundation Professor of Cardiology at the University of Leicester Professor Nilesh Samani, of the Department of Cardiovascular Sciences, who co-led the project explained that there are two forms of ageing – chronological ageing i.e. how old you are in years and biological ageing whereby the cells of some individuals are older (or younger) than suggested by their actual age.

He said: "There is accumulating evidence that the risk of age-associated diseases including heart disease and some types of cancers are more closely related to biological rather than chronological age.

"What we studied are structures called telomeres which are parts of one's chromosomes. Individuals are born with telomeres of certain length and in many cells telomeres shorten as the cells divide and age. Telomere length is therefore considered a marker of biological ageing.

"In this study what we found was that those individuals carrying a particular genetic variant had shorter telomeres i.e. looked biologically older. Given the association of shorter telomeres with age-associated diseases, the finding raises the question whether individuals carrying the variant are at greater risk of developing such diseases"

Professor Tim Spector from King's College London and director of the TwinsUK study, who co-led this project, added:

"The variants identified lies near a gene called TERC which is already known to play an important role in maintaining telomere length. What our study suggests is that some people are genetically programmed to age at a faster rate. The effect was quite considerable in those with the variant, equivalent to between 3-4 years of 'biological aging" as measured by telomere length loss. Alternatively genetically susceptible people may age even faster when exposed to proven 'bad' environments for telomeres like smoking, obesity or lack of exercise – and end up several years biologically older or succumbing to more age-related diseases. "

Notes to Editors:

The paper, will be published online in Nature Genetics on 07 February 2010. To view the paper, please visit

Please cite the University of Leicester and King's College London in all reports

Professor Samani is British Heart Foundation Professor of Cardiology at the University of Leicester and Consultant Cardiologist at the University Hospitals of Leicester NHS Trust based at Glenfield Hospital. Professor Spector is also NIHR NHS Senior Clinical Investigator at King's College London and Guys & St Thomas' Hospital Foundation Trust.

The Wellcome Trust is the largest charity in the UK. It funds innovative biomedical research, in the UK and internationally, spending over £600 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.

The British Heart Foundation (BHF) is the nation's heart charity, dedicated to saving lives through pioneering research, patient care, campaigning for change and by providing vital information. But we urgently need help. We rely on donations of time and money to continue our life-saving work. Because together we can beat heart disease. For more information visit

Further information:

Professor Nilesh Samani, Department of Cardiovascular Sciences, University of Leicester Tel No. 0116 256 3021

Professor Tim Spector, Department of Twin Research and Genetic Epidemiology, King's College London, UK

Tel: +44 (0) 20 7 188 6765, Email: or

For details on TwinsUK- see

Kate Moore | Public Relations Officer (Health Schools)
Public Relations Department | King's College London
4.14 James Clerk Maxwell Building
Waterloo Campus | 57 Waterloo Road
London | SE1 8WA
Tel: + 44 (0)20 7848 4334
King's College London
King's College London is one of the top 25 universities in the world (Times Higher Education 2009) and the fourth oldest in England. A research-led university based in the heart of London, King's has more than 21,000 students from nearly 140 countries, and more than 5,700 employees. King's is in the second phase of a £1 billion redevelopment programme which is transforming its estate.

King's has an outstanding reputation for providing world-class teaching and cutting-edge research. In the 2008 Research Assessment Exercise for British universities, 23 departments were ranked in the top quartile of British universities; over half of our academic staff work in departments that are in the top 10 per cent in the UK in their field and can thus be classed as world leading. The College is in the top seven UK universities for research earnings and has an overall annual income of nearly £450 million.

University of Leicester Press Office Contact:

Ather Mirza
University of Leicester Press Office
Division of Marketing & Communications
University of Leicester
Tel: 0116 252 3335
Twitter: @UniofLeicsNews
A member of the 1994 Group of universities that shares a commitment to research excellence, high quality teaching and an outstanding student experience.
Winner of Outstanding Student Support award, Times Higher 2009/10
Named University of the Year by Times Higher (2008/9) Shortlisted (2006, 2005) and by the Sunday Times (2007)
Ranked top with Cambridge for student satisfaction amongst full time students taught at mainstream universities in England
Ranked as a Top 20 UK university by the Sunday Times, Guardian,Times and UK Complete University Guide, published in The Independent
Ranked in world's top 3% of universities by Shanghai Jiao Tong International Index, 2005-08 and the Times Higher Education-QS World University Rankings

Students' Union of the Year award 2005, short listed 2006 and 2007

Professor Nilesh Samani | EurekAlert!
Further information:

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