Genetics of liver disease in adults

Hepatol Commun. 2024 Mar 29;8(4):e0408. doi: 10.1097/HC9.0000000000000408. eCollection 2024 Apr 1.


Chronic liver disease stands as a significant global health problem with an estimated 2 million annual deaths across the globe. Combining the use of next-generation sequencing technologies with evolving knowledge in the interpretation of genetic variation across the human genome is propelling our understanding, diagnosis, and management of both rare and common liver diseases. Here, we review the contribution of risk and protective alleles to common forms of liver disease, the rising number of monogenic diseases affecting the liver, and the role of somatic genetic variants in the onset and progression of oncological and non-oncological liver diseases. The incorporation of genomic information in the diagnosis and management of patients with liver disease is driving the beginning of a new era of genomics-informed clinical hepatology practice, facilitating personalized medicine, and improving patient care.

Publication types

  • Review

MeSH terms

  • Adult
  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liver Diseases* / diagnosis
  • Liver Diseases* / genetics
  • Precision Medicine