PDCD1 and IFNL4 genetic variants and risk of developing hepatitis C virus-related diseases: Liver International

V. De Re, M.L. Tornesello, M. De Zorzi, L. Caggiari, F. Pezzuto, P. Leone, V. Racanelli, G. Lauletta, S. Zanussi, O. Repetto, L. Gragnani, F.M. Rossi, R. Dolcetti, A.L. Zignego, F.M. Buonaguro, A. Steffan

Research output: Contribution to journalArticlepeer-review


Background: Genetic variants of IFNL4 and PDCD1 genes have been shown to influence the spontaneous clearance of hepatitis C virus (HCV) infection. We investigated the IFNL4 rs12979860 and the PDCD1 polymorphisms in 734 HCV-positive patients, including 461 cases with liver disease of varying severity and 273 patients with lymphoproliferative disorders to determine the association of these genes with patient's outcome. Methods: Expression levels of PDCD1 mRNA encoded by haplotypes were investigated by quantitative PCR in hepatocellular carcinoma (HCC) tissue and peripheral blood mononuclear cells. Flow cytometry was used to detect PD-1 and its ligand PD-L1. Results: The frequency of IFNL4 rs12979860 C/T or T/T genotypes was significantly higher in patients with HCV-related diseases than blood donors (P 
Original languageEnglish
Pages (from-to)133-149
Number of pages17
JournalLiver Int.
Issue number1
Publication statusPublished - 2021


  • cryoglobulinaemia
  • hepatitis virus C
  • hepatocellular carcinoma
  • IFNλ4
  • PD-1
  • antivirus agent
  • CD19 antigen
  • immunoglobulin M
  • interferon
  • interferon lambda 4
  • messenger RNA
  • programmed death 1 ligand 1
  • programmed death 1 receptor
  • unclassified drug
  • virus RNA
  • adult
  • aged
  • allele
  • amino acid sequence
  • antiviral therapy
  • Article
  • B lymphocyte
  • blood donor
  • cancer tissue
  • case control study
  • CD4+ T lymphocyte
  • cell interaction
  • chronic hepatitis C
  • clinical outcome
  • controlled study
  • cryoglobulinemia
  • cytokine release
  • disease severity
  • epistasis
  • female
  • flow cytometry
  • gene frequency
  • gene linkage disequilibrium
  • gene mutation
  • genetic association
  • genetic risk
  • genetic susceptibility
  • genetic variability
  • genotype
  • haplotype
  • Hepatitis C virus
  • human
  • human cell
  • liver cell carcinoma
  • liver cirrhosis
  • liver disease
  • liver fibrosis
  • major clinical study
  • male
  • middle aged
  • mRNA expression level
  • mutational analysis
  • nonhodgkin lymphoma
  • peripheral blood mononuclear cell
  • real time polymerase chain reaction
  • regulatory B lymphocyte
  • single nucleotide polymorphism


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