IFNL3 polymorphisms and HCV infection in patients with beta thalassemia
Background and relationale for the study. Genome-wide association studies have identified host genetic variation to be critical for spontaneous clearance and treatment response in patients infected with hepatitis C virus. Recently, the role of the IFNL3 polymorphisms in influencing the spontaneous c...
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doaj-979c0430eaa146889413810ef12a60452021-06-09T05:53:57ZengElsevierAnnals of Hepatology1665-26812015-05-01143389395IFNL3 polymorphisms and HCV infection in patients with beta thalassemiaRaffaella Origa0Giuseppe Marceddu1Fabrice Danjou2Luciana Perseu3Stefania Satta4Franca Rosa Demartis5Antonio Piga6Filomena Longo7Maria-Eliana Lai8Stefania Vacquer9Renzo Galanello10Clinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare-Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy; Correspondence and reprint request:Clinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare-Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, ItalyClinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare-Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, ItalyIstituto di Ricerca Genetica e Biomedica (IRGB) CNR, Cagliari, ItalyClinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare-Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, ItalyClinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare-Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, ItalyThalassemia Center, University of Turin, Orbassano, ItalyThalassemia Center, University of Turin, Orbassano, ItalyOspedale Regionale per le Microcitemie, ASL8, Cagliari, ItalyOspedale Regionale per le Microcitemie, ASL8, Cagliari, ItalyOspedale Regionale per le Microcitemie, ASL8, Cagliari, ItalyBackground and relationale for the study. Genome-wide association studies have identified host genetic variation to be critical for spontaneous clearance and treatment response in patients infected with hepatitis C virus. Recently, the role of the IFNL3 polymorphisms in influencing the spontaneous clearance of HCV, the response to interferon and the progression of liver fibrosis, was also demonstrated in patients with thalassemia major infected by genotype 1b. In the present study we retrospectively analyzed 368 anti-HCV positive patients with beta-thalassemia at two Italian major centers in Cagliari and Torino.Results. C/C variant of polymorphism rs12979860 was related to response to interferon treatment and, above all, to spontaneous clearance of the virus. However, the positive predictive power was stronger for viral persistence than spontaneous clearance and in such respect the TT allele was more predictive than CC. The methylation associated polymorphism rs4803221 had independent effects with respect to rs12979860 and the haplotype tagged by SNP rs12979860 and rs4803221 significantly could improve the viral clearance prediction in infected patients. Neither necroinflammation or bilirubin values in the chronic phase of the hepatitis C were related to IFNL3 polymorphisms. No relation among IFNL3 polymorphisms and fibrosis stage directly shown by the liver biopsy was found.Conclusions. Also in thalassemia the SNPs on chromosome 19q13 closely associates with spontaneous and treatment-induced HCV clearance. The viral clearance prediction is significantly improved by the haplotype tagged by SNP rs12979860 and rs4803221. Neither necroinflammation, bilirubin values or fibrosis stage seem to be related to IFNL3 polymorphisms.http://www.sciencedirect.com/science/article/pii/S1665268119312797Transfusion-borne infectionsVirus CIL28BViral clearanceViral persistence |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Raffaella Origa Giuseppe Marceddu Fabrice Danjou Luciana Perseu Stefania Satta Franca Rosa Demartis Antonio Piga Filomena Longo Maria-Eliana Lai Stefania Vacquer Renzo Galanello |
spellingShingle |
Raffaella Origa Giuseppe Marceddu Fabrice Danjou Luciana Perseu Stefania Satta Franca Rosa Demartis Antonio Piga Filomena Longo Maria-Eliana Lai Stefania Vacquer Renzo Galanello IFNL3 polymorphisms and HCV infection in patients with beta thalassemia Annals of Hepatology Transfusion-borne infections Virus C IL28B Viral clearance Viral persistence |
author_facet |
Raffaella Origa Giuseppe Marceddu Fabrice Danjou Luciana Perseu Stefania Satta Franca Rosa Demartis Antonio Piga Filomena Longo Maria-Eliana Lai Stefania Vacquer Renzo Galanello |
author_sort |
Raffaella Origa |
title |
IFNL3 polymorphisms and HCV infection in patients with beta thalassemia |
title_short |
IFNL3 polymorphisms and HCV infection in patients with beta thalassemia |
title_full |
IFNL3 polymorphisms and HCV infection in patients with beta thalassemia |
title_fullStr |
IFNL3 polymorphisms and HCV infection in patients with beta thalassemia |
title_full_unstemmed |
IFNL3 polymorphisms and HCV infection in patients with beta thalassemia |
title_sort |
ifnl3 polymorphisms and hcv infection in patients with beta thalassemia |
publisher |
Elsevier |
series |
Annals of Hepatology |
issn |
1665-2681 |
publishDate |
2015-05-01 |
description |
Background and relationale for the study. Genome-wide association studies have identified host genetic variation to be critical for spontaneous clearance and treatment response in patients infected with hepatitis C virus. Recently, the role of the IFNL3 polymorphisms in influencing the spontaneous clearance of HCV, the response to interferon and the progression of liver fibrosis, was also demonstrated in patients with thalassemia major infected by genotype 1b. In the present study we retrospectively analyzed 368 anti-HCV positive patients with beta-thalassemia at two Italian major centers in Cagliari and Torino.Results. C/C variant of polymorphism rs12979860 was related to response to interferon treatment and, above all, to spontaneous clearance of the virus. However, the positive predictive power was stronger for viral persistence than spontaneous clearance and in such respect the TT allele was more predictive than CC. The methylation associated polymorphism rs4803221 had independent effects with respect to rs12979860 and the haplotype tagged by SNP rs12979860 and rs4803221 significantly could improve the viral clearance prediction in infected patients. Neither necroinflammation or bilirubin values in the chronic phase of the hepatitis C were related to IFNL3 polymorphisms. No relation among IFNL3 polymorphisms and fibrosis stage directly shown by the liver biopsy was found.Conclusions. Also in thalassemia the SNPs on chromosome 19q13 closely associates with spontaneous and treatment-induced HCV clearance. The viral clearance prediction is significantly improved by the haplotype tagged by SNP rs12979860 and rs4803221. Neither necroinflammation, bilirubin values or fibrosis stage seem to be related to IFNL3 polymorphisms. |
topic |
Transfusion-borne infections Virus C IL28B Viral clearance Viral persistence |
url |
http://www.sciencedirect.com/science/article/pii/S1665268119312797 |
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