The Global Impact of Tm6sf2 E167k Polymorphism on Nafld and Related Liver Diseases: a Population-based Review
Year: 2025
Type: article
Abstract: The TM6SF2 E167K gene variation has become a significant genetic component in the onset and progression of a number of liver illnesses, particularly cirrhosis, hepatocellular carcinoma (HCC), metabolic-related fatty liver disease (MAFLD), and non-alcoholic fatty liver disease (NAFLD). Data from over 37 research on various populations in Asia, Europe, the Middle East, the Americas, and Australia are included in this collection. Each study displays the genotype distribution (CC, CT, TT) of the TM6SF2 variant with sample sizes ranging from less than 100 to more than 20,000 individuals. The frequencies of the risk allele (T) vary markedly by region and disease type, highlighting potential ethnic and environmental factors for the pathogenic effect of the TM6SF2 variant. Collectively, these studies reinforce the importance of TM6SF2 E167K as a genetic marker for liver disease susceptibility and highlight the need for population-specific risk assessments and targeted interventions. A baseline dataset for upcoming functional investigations into the function of TM6SF2 in hepatic pathophysiology is provided by this review.
DOI: 10.47413/7gpcx968
Institution: Gujarat University
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414379265
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