PNPLA3 and HSD17B13 Polymorphisms' Influence on Liver Fibrosis Development in a Small Cohort of Italian Patients With Viral Hepatitis

Abstract

Background: PNPLA3/HSD17B13 gene polymorphisms have been associated in Northern Europe and USA with evolution to or protection from liver fibrosis, respectively. We investigated the effects of PNPLA3 and/or HSD13B17 polymorphisms on the development of liver cirrhosis after single or dual hepatitis B virus (HBV) and hepatitis C virus (HCV) infection in Italian patients.

Methods: A total of 280 patients with chronic hepatitis due to HBV, HCV or HBV-HCV, naive from antiviral therapy, were genotyped for PNAPL3 I148M and HSD17B13 rs72613567:TA variants.

Results: Totally, 112 patients had liver cirrhosis and 168 did not. The PNPLA3 polymorphism was prevalent in our population, while the HSD17B13 was rare. The PNPLA3 mutant correlated with elevated alanine aminotransferases (ALT) levels (P = 0.005), the HSD17B13 with elevated HCV RNA serum levels (P = 0.04). PNPLA3 mutants were significantly associated with absence of cirrhosis in the overall group (P = 0.01) and in the HCV-infected subgroup (P < 0.001), while HSD17B13 was associated with absence of cirrhosis only in HCV-infected patients (P < 0.05). At univariate analysis, age was a factor favoring cirrhosis and PNPLA3 polymorphism was negatively associated with liver cirrhosis (P < 0.01 and 0.017, respectively); at multivariable analysis, only age was confirmed as an independent factor promoting liver cirrhosis (odds ratio (OR): 7.79; P ≤ 0.001). The presence of any mutant allele of either PNPLA3 and/or HSD17B13 was negatively associated with cirrhosis (P = 0.02) at univariate analysis.

Conclusions: In our Italian population PNPLA3 and HSD17B13 polymorphisms were not positively associated with fibrosis progression in chronic viral hepatitis.

Clin Infect Immun. 2023;8(1):24-30
doi: https://doi.org/10.14740/cii160