02:22pm Thursday 21 September 2017

Largest ever genetic study of liver function could point the way to new treatments

Researchers have identified a large number of areas in the human genetic code that are involved in regulating the way in which the liver functions, in a new study of over 61,000 people, published today in the journal Nature Genetics.

The work is an international collaboration led by Imperial College London and it identifies 42 genetic regions associated with liver function, 32 of which had not been linked to liver function before. The work should lead to a better understanding of precisely what goes wrong when the liver ceases to work normally. Ultimately, it could point the way to new treatments that can improve the function of the liver and help to prevent liver damage.

The liver is the body’s largest internal organ and the British Liver Trust estimates that around two million people in the UK have a liver problem at any one time. The liver carries out hundreds of different tasks, including making proteins and blood clotting factors, and helping with digestion and energy release. It also purifies the blood of bacteria, and of the by-products of digestion, alcohol and drugs.

In the new genome-wide association study, the researchers compared the genetic makeup of over 61,000 people, in order to identify areas of the genetic code that were associated with liver function.

The team assessed the function of the volunteers’ livers by looking at the concentrations of liver enzymes in their blood. People who have liver damage have high concentrations of these enzymes, which are associated with an increased risk of conditions such as cirrhosis, type 2 diabetes and cardiovascular disease.

Dr John Chambers, the lead author of the study from the School of Public Health at Imperial College London, said: “The liver is a central hub in the body and because it has so many diverse functions, it is linked to a large number of conditions. Our new study is a big step towards understanding the role that different genes play in keeping the liver working normally, and towards identifying targets for drugs that can help prevent the liver from functioning abnormally or becoming susceptible to disease.”

The researchers identified 42 areas on the genetic code associated with liver function and they then went on to pinpoint 69 associated genes within these areas. Some of the genes are known to play a part in other functions in the body, including inflammation and immunity, and metabolising glucose and carbohydrates.

The British Liver Trust estimates that around two million people in the UK have a liver problem at any one time.

Professor Jaspal S Kooner, the senior author of the study from the National Heart and Lung Institute at Imperial College London, said: “This massive international research effort provides in-depth new knowledge about the genes regulating the liver. We are particularly excited about the genes whose precise role we don’t yet know. Investigating these further should help us to fill in the gaps in our understanding about what happens when the liver ceases to function normally and how we might be able to tackle this.”

Professor Paul Elliott, also a senior author of the study, from the School of Public Health at Imperial College London, said: “Liver problems affect a huge number of people and they can have a devastating effect on a person’s quality of life. This study represents a vast discovery that opens up multiple new avenues for research.”

The research was funded by the Imperial Comprehensive Biomedical Research Centre award from the National Institute for Health Research; the Medical Research Council; the Wellcome Trust; and other sources.

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For further information please contact:

Laura Gallagher
Research Media Relations Manager
Imperial College London
email: l.gallagher@imperial.ac.uk
Tel: +44(0)20 7594 8432
Out of hours duty media officer: +44(0)7803 886 248

Notes to editors:

1.  “Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma” Nature Genetics, Sunday 16 October 2011

Download a proof of this paper (under strict embargo for 18.00 UK time on Sunday 16 October 2011) using this link: https://fileexchange.imperial.ac.uk/files/e7a9b20cd3/NG.970_Rev_Final_PR.pdf

2.  About Imperial College London

Consistently rated amongst the world’s best universities, Imperial College London is a science-based institution with a reputation for excellence in teaching and research that attracts 14,000 students and 6,000 staff of the highest international quality. Innovative research at the College explores the interface between science, medicine, engineering and business, delivering practical solutions that improve quality of life and the environment – underpinned by a dynamic enterprise culture.

Since its foundation in 1907, Imperial’s contributions to society have included the discovery of penicillin, the developmen t of holography and the foundations of fibre optics. This commitment to the application of research for the benefit of all continues today, with current focuses inc luding interdisciplinary collabor a tions to improve global health, tackle clim ate change, develop sustainable sources of energy and address security challenges.

In 2007, Imperial College London and Imperial College Healthcare NHS Trust formed the UK’s first Academic Health Science Centre. This unique partnership aims to improve the quality of life of patients and populations by taking new discoveries a nd translating them into new therapies as quickly as possible.


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