Genetic and Epigenetic Culprits in the Pathogenesis of Nonalcoholic Fatty Liver Disease

Alexander J. Kovalic, Pratik Banerjee, Quynh T. Tran, Ashwani K. Singal, Sanjaya K. Satapathy

Research output: Contribution to journalReview articlepeer-review


Nonalcoholic Fatty Liver Disease (NAFLD) constitutes a wide spectrum of liver pathology with hepatic steatosis at the core of this pathogenesis. Variations of certain genetic components have demonstrated increased susceptibility for hepatic steatosis. Therefore, these inciting variants must be further characterized in order to ultimately provide effective, targeted therapies for NAFLD and will be the focus of this review. Several genetic variants revealed an association with NAFLD through Genome-wide Association Study, meta-analyses, and retrospective case–control studies. PNPLA3 rs738409 and TM6SF2 rs58542926 are the two genetic variants providing the strongest evidence for association with NAFLD. However, it remains to be determined if these genetic variants serve as the primary culprit which induces the pathogenesis of NAFLD. Prospective and intervention studies are urgently needed to firmly establish a cause-and-effect relationship between the presence of certain genetic variants and risk of NAFLD development and progression.

Original languageEnglish (US)
Pages (from-to)390-402
Number of pages13
JournalJournal of Clinical and Experimental Hepatology
Issue number4
StatePublished - Dec 2018
Externally publishedYes


  • epigenetics
  • genetic polymorphisms
  • genetic variants
  • nonalcoholic fatty liver disease
  • single nucleotide polymorphisms

ASJC Scopus subject areas

  • Hepatology


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