Researchers discover genetic changes that protect against liver disease

Using data from Geisinger’s MyCode Community Health Initiative, researchers have discovered genetic changes associated with protection against liver disease, including nonalcoholic steatohepatitis (NASH) and cirrhosis. The discovery was published in The New England Journal of Medicine

In the largest sequencing study to date on the genetic basis of liver health, scientists at Regeneron Genetics Center and Geisinger sequenced the exomes of more than 540,000 people across five ancestry groups and multiple cohorts, including MyCode and the UK Biobank. Analyzing this genetic data along with deidentified health records, researchers found that people with loss-of-function mutations in one of two copies of the CIDEB gene had an approximately 53% reduction in the risk of nonalcoholic liver disease and approximately 54% reduction in the risk of nonalcoholic cirrhosis. The study also found that CIDEB mutations had greater protective associations in people with obesity or Type 2 diabetes, who are traditionally at higher risk for NASH, compared to people without these conditions.

“These relatively rare genetic variants found to be protective against liver disease may help guide treatment for a larger population with fatty liver disease, which is the leading indication for liver transplantation,” said Christopher D. Still, DO, director of Geisinger’s Obesity Institute and a co-author of the study. “This is another example of data from our MyCode Community Health Initiative contributing to discoveries with the potential to improve care.”