A Genetic Risk Score to Identify Alchol-related Cirrhosis

Photo by Pavel Danilyuk on Pexels

In a world first, researchers have developed a genetic risk score (GRS) test able to identify patients at high-risk of developing alcohol-related cirrhosis.

Cirrhosis results in approximately 300 000 deaths each year world-wide. In their study, the researchers found that a high GRS from the test of excessive alcohol consumers resulted in a three-fold increase in cirrhosis risk. Having diabetes together with a high GRS increased the cirrhosis risk among drinkers more than 10-fold.

Joint senior author of the study, Clinical Associate Professor Devanshi Seth, said that only a minority of high-risk drinkers – approximately 10 to 15%– actually end up developing alcohol-induced cirrhosis. To date, however, there had been no way to identify those at-risk individuals.

“Our GRS test lets us identify at-risk individuals at an early stage enabling the application of focused interventions. Evidence suggests that even just informing excessive drinkers that they have an increased cirrhosis risk may motivate them to reduce their alcohol intake, helping prevent serious disease,” said Clinical Associate Professor Seth.

The lead author of the study, Dr John Whitfield from QIMR Berghofer Medical Research Institute, said that the test had been developed by examining samples from patients with and without alcohol-related cirrhosis, but who all had a history of heavy alcohol consumption.

“This was classified as men consuming more than 80 grams (8 standard drinks) of alcohol daily and women more than 50 grams daily, both for a time period of ten or more years.”

“Risk scores were computed by the analysis of up to eight gene variations and three clinical risk factors (including type 2 diabetes) associated with alcohol-related cirrhosis,” Dr Whitfield said.

“We’ve shown that a GRS based on only three genetic risk variants plus diabetes status can be extremely meaningful in determining overall cirrhosis risk. Our test will allow for early and personalised management of high-risk patients,” said Clinical Associate Professor Seth.

Source: Centenary Institute