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, D.O., 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.”
Since its inception in 2007, MyCode has enrolled more than 314,000 participants. With DNA sequencing and health data available on nearly 185,000 of these participants, MyCode is the largest healthcare system-based study of its kind. MyCode was one of the first programs to return clinically actionable results to patient-participants through its Genomic Screening and Counseling (GSC) Program, and to date, more than 3,600 participants at increased risk for potentially life-threatening conditions have received genomic risk results.
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.
For more information about MyCode, visit geisinger.org/mycode.
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes 10 hospital campuses, a health plan with more than half a million members, a Research Institute and the Geisinger Commonwealth School of Medicine. With nearly 24,000 employees and more than 1,700 employed physicians, Geisinger boosts its hometown economies in Pennsylvania by billions of dollars annually. Learn more at Facebook, Instagram, LinkedIn and Twitter.