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Genetic risk variants for alcohol-related liver scarringAdd to my bookmarks

Nature Genetics

October 20, 2015

New genetic variants associated with an increased risk for heavy drinkers to develop cirrhosis, or scarring of the liver, are reported in a study published online this week in Nature Genetics. The study finds that alcohol-related cirrhosis and fatty liver disease not caused by alcohol share genetic risk factors.

A build-up of fat in the liver occurs in most heavy drinkers, but cirrhosis develops in only 10-15% of alcohol misusers. Previous studies have found that genetics has a role in the risk of developing cirrhosis from alcohol misuse, but only one genetic risk variant, in the gene PNPLA3, has been identified so far.

Felix Stickel and colleagues performed a genome-wide association study in individuals of European descent (from Germany, UK and Belgium), comparing genetic variation between 712 long-term heavy drinkers with cirrhosis and 1,426 long-term heavy drinkers without any evidence of liver damage, with replication of their results in a further 1,148 individuals with cirrhosis and 922 without. They confirm that variants in PNPLA3 confer an increased risk of developing cirrhosis and identify risk variants in two new genes: MBOAT7 and TM6SF2. All three genes are involved in the processing of fats, suggesting that this pathway is important in the development of alcohol-related cirrhosis.

Although the susceptibility genes found in this study are not directly related to genes involved in alcohol dependence, they do overlap with susceptibility genes for non-alcoholic fatty liver disease. The authors suggest that the risk-associated genes may be therapeutic targets in both disorders and could also be used to identify high-risk populations for targeted intervention.

DOI:10.1038/ng.3417 | Original article

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