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First-of-its-kind study of puberty timing in men

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November 9, 2015 – In the largest genomic analysis of puberty timing in men, new research conducted by scientists at the University of Cambridge and 23andMe* shows that the timing of puberty in males and females is influenced by many of the same-shared genetic factors. The study results are the first to quantify the strongly shared genetic basis for puberty timing between the sexes.

Published this week in Nature Communications, the study is the largest genomic analysis of puberty to look at both men and women. Previous work had identified 106 genetic variants that alter puberty timing in females, and the current study shows that those same genetic factors have very similar effects on male puberty timing. The study looked at genetic information of more than 55,000 male 23andMe customers who consented to participate in research. Following this first analysis, the collected data was compared to existing data from more than 250,000 women. The study focused on the genetic regions that influence age at voice breaking – a distinct developmental milestone that happens to young men as their larynx (voice box) lengthens when exposed to male hormones.

"Our study shows that although there are obvious physical differences in pubertal development between boys and girls, many of the underlying biological processes governing it are the same. It also shows that the age when men's voices break, even when recalled decades after the event, is an informative measure of puberty timing," says co-author Dr. Felix Day from the MRC Epidemiology Unit at the University of Cambridge.

"Until now, most of our understanding of the biological regulation of puberty timing has come from large studies of healthy women, in whom the stages of puberty are usually easier to remember, or studies of patients affected by rare disorders. Research has been scarce in men, largely because investigators have disregarded the accuracy that men can recall pubertal events," explains study lead Dr. John Perry (also from the MRC Epidemiology Unit at the University of Cambridge).

In addition, the study finds five new genetic variants associated with puberty timing, some acting through known hormone pathways, others through previously overlooked hormone pathways.

One of the main aims of this study was to look at the relevance of male puberty timing in impacting health and the development of diseases. The study found that many of the genes involved in puberty timing were also shared with diseases that appear later in life. For most diseases, earlier puberty appeared genetically linked to poorer health outcomes.

Co-lead Dr. Ken Ong (also from the MRC Epidemiology Unit at the University of Cambridge) concludes, "There was already good evidence in women that earlier puberty timing leads to higher risks for health outcomes later in life such as Type 2 diabetes, obesity and cardiovascular disease. We now show that the same is true in men. The next steps will be to understand how to prevent early puberty in boys and girls, possibly by reducing childhood overweight and obesity, or by other means."

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Notes to editors:

For further information or to request an interview with a researcher, please contact:

Craig Brierley

Head of Research Communications

University of Cambridge

Tel: +44 (0)1223 766205

Mob: +44 (0)7957 468218

Email: [email protected]

Paul Browne

Communications Manager

MRC Epidemiology Unit

Tel: +44 (0)1223 769148

Mob: +44 (0)7791 536387

Email: [email protected]

Paper: Felix R. Day, Brendan Bulik-Sullivan, David A. Hinds Hilary K. Finucane, Joanne M. Murabito, Joyce Y. Tung, Ken K. Ong & John R.B. Perry. Shared genetic aetiology of puberty timing between sexes and with health-related outcomes. Nature Communications (2015)

Link once embargo lifts: http://dx.doi.org/10.1038/ncomms9842

The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers' money in some of the best medical research in the world across every area of health. Thirty-one MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. http://www.mrc.ac.uk

The MRC Epidemiology Unit is a department at the University of Cambridge. It studies the genetic, developmental and environmental factors that cause obesity, type 2 diabetes and related metabolic disorders. The outcomes from these studies are then used to develop strategies for the prevention of these diseases in the general population. http://www.mrc-epid.cam.ac.uk

The mission of the University of Cambridge is to contribute to society through the pursuit of education, learning and research at the highest international levels of excellence. To date, 90 affiliates of the University have won the Nobel Prize.

Founded in 1209, the University comprises 31 autonomous Colleges, which admit undergraduates and provide small-group tuition, and 150 departments, faculties and institutions.

Cambridge is a global university. Its 19,000 student body includes 3,700 international students from 120 countries. Cambridge researchers collaborate with colleagues worldwide, and the University has established larger-scale partnerships in Asia, Africa and America.

The University sits at the heart of one of the world's largest technology clusters. The 'Cambridge Phenomenon' has created 1,500 hi-tech companies, 12 of them valued at over US$1 billion and two at over US$10 billion. Cambridge promotes the interface between academia and business, and has a global reputation for innovation. http://www.cam.ac.uk

About 23andMe

23andMe, Inc. is the leading personal genetics company. Founded in 2006, the mission of the company is to help people access, understand and benefit from the human genome. 23andMe has more than one million customers worldwide, with over 80 percent consented to participate in research. 23andMe, Inc. is located in Mountain View, CA. More information is available at http://www.23andMe.com.

*Data was contributed by 23andMe customers who provided informed consent to take part in this research under a protocol approved by the AAHRPP-accredited institutional review board, Ethical and Independent Review Services.

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