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Researchers discover genetic changes that may fend against liver disease

DANVILLE — 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, Geisinger announced in a recent press release.

The discovery was published this week in The New England Journal of Medicine.

In the largest sequencing study to date on the genetic basis of liver health, according to the release, 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 press release said. “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, D.O., director of Geisinger’s Obesity Institute and a co-author of the study.

Since its inception in 2007, MyCode has enrolled more than 314,000 participants. With DNA sequencing and health data available on nearly 185,000 participants, MyCode is the largest health care system-based study of its kind, according to the press release.

In addition to this latest study, analysis of MyCode data has contributed to a number of groundbreaking discoveries, including a rare genetic variant that protects against obesity.

Geisinger researchers have recently received several grants to study the impact of genomics on health, including a study of the genetics of cancer, improvements in the diagnosis of familial hypercholesterolemia, and development of a tool to diagnose genetic disorders in real time, according to the press release.

For more information about MyCode, visit geisinger.org/mycode.

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