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PDCD1 and IFNL4 genetic variants and risk of developing hepatitis C virus‐related diseases

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...

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Published in:Liver international 2021-01, Vol.41 (1), p.133-149
Main Authors: De Re, Valli, Tornesello, Maria Lina, De Zorzi, Mariangela, Caggiari, Laura, Pezzuto, Francesca, Leone, Patrizia, Racanelli, Vito, Lauletta, Gianfranco, Zanussi, Stefania, Repetto, Ombretta, Gragnani, Laura, Rossi, Francesca Maria, Dolcetti, Riccardo, Zignego, Anna Linda, Buonaguro, Franco M., Steffan, Agostino
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Language:English
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Summary: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 
ISSN:1478-3223
1478-3231
DOI:10.1111/liv.14667