Alcoholic cirrhosis & genetics


Researchers from the Centenary Institute have released some of the initial clinical findings to emerge from a world first genome-wide association study in alcoholic cirrhosis.

The findings suggest that alcohol consumption levels may not be the only common link between chronic excessive drinkers and liver disease (cirrhosis) – it could be due to a genetic link. Through this study, a possible parental link has been identified with many of the participants with cirrhosis reporting that their father consumed excessive quantities of alcohol and had died from liver disease

Testing the genes of hundreds of Sydney-siders and thousands of others across six countries, the US  government has invested $2.5 million in this Sydney-led study to determine the role of genetics in alcoholic liver disease.

Leading the study is the Centenary Institute’s Dr Devanshi Seth, who says that this study should ultimately lead to better and earlier diagnosis and treatment of the condition – a silent epidemic that costs $3.8 billion a year
in Australia alone.

“It is widely accepted that 15-20% of chronic excessive drinkers will develop cirrhosis, although rates of up to 50% have been reported,” Dr Seth said.

“There is widespread acceptance among liver specialists that not all patients who drink excessive alcohol will  develop cirrhosis. Our study is working to uncover the genetic factors that increase the risk of developing cirrhosis.”

Dr Seth said participants and researchers in this study are located in Australia, France, Germany, Switzerland, the UK, and the USA.

“The study is ongoing to recruit 5,000 patients across the world. To date, we have collected approximately 50% of our total specimens,” Dr Seth said.

“So far, we have found that alcohol consumption levels were similar in drinkers who did not have liver disease  as to those who had cirrhosis, emphasising the existence of individual vulnerability factors. We also found that affected individuals were more likely to report that a father with alcohol problems had died from liver disease, underscoring and exemplifying the heritability of this disease.”

In the next stages of this study it is expected that the genetic information generated will provide the first ‘genetic architecture’ of alcoholic liver cirrhosis and identify risk factors. This will be a significant advancement in the field of alcohol and liver research, as this level of information is not yet known for this disease.

This study is being conducted by a large international consortia with multidisciplinary experts, including the GenomALC consortium. The stablishment of GenomALC will lead to the largest collection of tissue and data of
its kind, which will be a valuable resource for future alcohol and liver research and genetic studies.

The Centenary Institute acknowledges and thanks the National Institute on Alcohol Abuse and Alcoholism (NIAAA) for the financial support for this study. Without grant funding from the NIAAA we would not be able to conduct this large, international study.

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