MBL 2 Genetic Variants in HCV Infection Susceptibility, Spontaneous Viral Clearance and Pegylated Interferon Plus Ribavirin Treatment Response

• Published in: Scandinavian journal of immunology Vol. 84; no. 1; pp. 61 - 69
• Main Authors: Zupin, L., Polesello, V., Alberi, G., Moratelli, G., Crocè, S. L., Masutti, F., Pozzato, G., Crovella, S., Segat, L.
• Format: Journal Article
• Language: English
• Published: 01.07.2016
• ISSN: 0300-9475; 1365-3083
• DOI: 10.1111/sji.12444

Abstract Hepatitis C is disease that damages the liver, and it is caused by the hepatitis C virus ( HCV ). The pathology became chronic in about 80% of the cases due to virus persistence in the host organism. The standard of care consists of pegylated interferon plus ribavirin; however, the treatment response is very variable and different host/viral factors may concur in the disease outcome. The mannose‐binding protein C ( MBL ) is a component of the innate immune system, able to recognize HCV and consecutively activating the immune response. MBL is encoded by MBL 2 gene, and polymorphisms, two in the promoter region (H/L and X/Y) and three in exon 1 (at codon 52, 54 and 57), have been described as functionally influencing protein expression. In this work, 203 Italian HCV patients and 61 healthy controls were enrolled and genotyped for the five MBL 2 polymorphisms mentioned above to investigate their role in HCV infection susceptibility, spontaneous viral clearance and treatment response. MBL 2 polymorphisms were not associated with HCV infection susceptibility and with spontaneous viral clearance, while MBL 2 O allele, O/O genotype, HYO haplotype and DP combined genotype (all correlated with low or deficient MBL expression) were associated with sustained virological response. Moreover, a meta‐analysis to assess the role of MBL 2 polymorphisms in HCV infection susceptibility was also performed: YA haplotype could be associated with protection towards HCV infection.