关键词: 肝硬化, 乙型肝炎, Patatin样磷脂酶域蛋白3, 腺苷活化蛋白激酶α1亚基, 基因多态性

Abstract: Objective The aim of this study was to explore the polymorphisms of patatin-like phospholipase domain-containing protein 3 (PNPLA3) and protein kinase AMP-activated catalytic subunitα1 (PRKAA1) genes and their correlation to liver cirrhosis in patients with hepatitis B viral infection. Methods A total of 101 patients with hepatitis B-induced liver cirrhosis and 90 asymptomatic HBV carriers were enrolled in our hospital between January 2016 and July 2021. The polymorphisms of PNPLA3 gene at rs738409, rs139047 and rs2294919 loci, and PRKAA1 gene at rs3792822, rs10036575 and rs154268 loci were detected by polymerase chain reaction-restriction fragment length polymorphism. The correlation of suspected genes and tendency of cirrhosis was explored by Logistic regression analysis. Results The percentages of AA, GA and GA genotypes of gene PNPLA3 at rs139047 locus in patients with cirrhosis were 18.8%, 51.5% and 29.7%, not statistically significantly different compared with 16.7%, 51.1% and 32.2% in HBV carriers (P>0.05); the percentages of CC, TC and TT genotypes of gene PNPLA3 at rs2294919 locus in patients with cirrhosis were 41.6%, 45.5% and 12.9%, not significantly different compared with 38.9%, 50.0% and 11.1% in HBV carriers (P>0.05); the percentages of GG, GA and AA genotypes of gene PRKAA1 at rs3792822 locus in patients with cirrhosis were 54.5%, 38.6% and 6.9%, not statistically significant compared with 55.6%, 37.8% and 6.7% in HBV carriers (P>0.05); the percentages of CC, CT and TT genotypes of gene PRKAA1 at rs154268 locus in patients with cirrhosis were 5.0%, 35.6% and 59.4%, not statistically significant compared with 4.4%, 34.4% and 61.1% in HBV carriers (P>0.05); the percentage of GG genotype and allele G of PNPLA3 gene at rs738409 locus in patients with cirrhosis were 19.8% and 44.6%, significantly higher than 8.9% and 29.4%, respectively, in HBV carriers (P<0.05), and the percentage of CC genotype and allele C of PRKAA1 gene at rs10036575 locus were 38.6% and 63.9%, significantly higher than 23.3% and 45.5%, respectively, in HBV carriers (P<0.05); the unconditional Logistic regression model analysis showed that the GG genotype of PNPLA3 gene at rs738409 locus [OR=1.605 (95%CI: 1.150-2.239)] and CC genotype of PRKAA1 gene at rs10036575 locus [OR=1.507 ((95%CI: 1.097-2.070)] were the risk genotype for cirrhosis occurrence. Conclusion The individuals with HBV infections and susceptible genes might have a high tendency of liver cirrhosis, and the polymorphism of PNPLA3 and PRKAA1 genes might have a correlation to the involved pathogenesis.

Key words: Liver cirrhosis, Hepatitis B, Patatin-like phospholipase domain-containing protein 3, Protein kinase AMP-activated catalytic subunitα1, Gene polymorphism