title: Association of polymorphisms in the first exon of mannose binding lectin gene (MBL2) in Brazilian patients with HCV infection.
abstract: In our study we investigated the role of the polymorphisms in the first exon of MBL2 gene in the susceptibility to HCV infection and disease progression in a Northeastern Brazilian population. One hundred and eleven patients seen at the Gastroenterology Service of the Oswaldo Cruz Hospital of the University of Pernambuco were included in this study. A total of 165 unexposed, uninfected individuals matched for place of origin were employed as healthy controls. MBL2 genotyping was performed by using a melting temperature assay. The 0 allele was significantly more frequent in the HCV positive group than the healthy controls (34% vs. 20%, p<0.01, respectively) and was associated to an increased risk of HCV-1 infection (O.R.=2.1; C.I. 1.41-3.19). Also genotypes frequencies were significantly different in HCV positive subjects when compared to healthy controls with the 00 and A0 genotypes being significantly overrepresented in HCV infected subject (15% and 37%, respectively) as compared to healthy subjects (6% and 27%, respectively, p<0.01 ) Allele and genotypes frequencies were also evaluated in HCV infected subjects according to their response to pegylated-INFalpha/riboviron therapy. There was a trend for HCV positive responders vs. non-responders to be 0 allele positive and a similar trend was observed for the MBL2 A0 and 00 genotypes, but neither of these reached statistical significance. Our findings indicate that MBL might represent an important antiviral molecule having a protective role in the first stages of HCV infection, as shown by the increased frequency of wild-type alleles in control population as compared to the infected group.
authors.affiliation: Department of Reproductive and Developmental Sciences, University of Trieste, Trieste, Italy. segat@burlo.trieste.it <segat@burlo.trieste.it>
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Luydson Richardson
authors.initials: LR
authors.lastname: Silva Vasconcelos
authors.forename: Francisco
authors.initials: F
authors.lastname: Montenegro de Melo
authors.forename: Bruna
authors.initials: B
authors.lastname: Santos Silva
authors.forename: Luiz Cláudio
authors.initials: LC
authors.lastname: Arraes
authors.forename: Patrícia
authors.initials: P
authors.lastname: Moura
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000328:Adult; D000368:Aged; D000998:Antiviral Agents / Q000627:therapeutic use; D001938:Brazil; D016022:Case-Control Studies; D018450:Disease Progression; D005091:Exons; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D019698:Hepatitis C, Chronic / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D000077190:Interferon alpha-2; D016898:Interferon-alpha / Q000627:therapeutic use; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D011092:Polyethylene Glycols; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000276:immunology; D011994:Recombinant Proteins; D012254:Ribavirin / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D000998:Antiviral Agents; D000077190:Interferon alpha-2; D016898:Interferon-alpha; D037601:Mannose-Binding Lectin; D011994:Recombinant Proteins; D011092:Polyethylene Glycols; D012254:Ribavirin; C417083:peginterferon alfa-2b