| Summary: | Introduction and Objectives: Hepatocellular carcinoma (HCC) is the third cause of cancer-related death worldwide. Assessment of genetic components has been used to better stratify those at risk. However, most studies have been performed in Asian or Caucasian populations. Tolloid-like protein 1 (TLL1) is one such SNP that has been shown to increase risk in hepatitis C virus (HCV)-associated HCC. We evaluated the risk association of TLL1 in a South American cohort. Materials and Methods: This is a cross-sectional analysis performed in South Americans with HCC as well as cirrhotic controls through the ESCALON network. We analyzed 120 HCC blood samples and 293 cirrhotic controls from Argentina, Chile, Brazil, Colombia, Ecuador and Peru. The pathogenic variant of TLL1 (rs1704200) was evaluated using TaqMan-genotyping assay. Multiple logistic regression was used to establish the association between TLL1 and HCC. Results: The median age of HCC patients was 68 years (IQR 62-72) and of cirrhotics 64 years IQR 68-70). The most common underlying liver disease in both groups was Non-alcoholic fatty liver disease (NAFLD) at 58% and 59%, respectively. The proportion of individuals who developed HCC with a TLL1 pathogenic variant (AT/TT) was 18.2% in the South American cohort. The calculated Odds-Ratio (OR) for HCC among South Americans with the TLL1 variant was 0.69 (CI 0.37-1.29), suggesting a non-significant decrease odds for HCC. Interestingly, different results were found when examining HCV-associated HCC (11% of the cases and 6% of controls). The OR for HCV-associated HCC in Latin Americans was 2.07 (CI 0.93-4.58), suggesting a non-significant increased odd of being diagnosed with HCC in South Americans with the variant. Conclusions: TLL1 mutations do not seem to associate with HCC development in South American patients with liver disease. However, preliminary results show that the presence of TLL1 SNP could confer an increased risk for HCC in South Americans with HCV infection.
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