Published: October 16, 2011. Imperial College London
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.
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."
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