title: Association of hepatitis C virus infection and liver fibrosis severity with the variants alleles of MBL2 gene in a Brazilian population.
abstract: Mannose binding lectin (MBL) is a molecule of the innate immunity, which activates the complement system and modulates inflammation. We investigated the association of the polymorphisms in the exon 1 and promoter region of the MBL gene (MBL2) with the susceptibility to hepatitis C virus (HCV) infection and the degree of liver fibrosis in Brazilian patients chronically infected with HCV. The study was performed in 232 healthy control subjects and 186 patients, 157 of whom underwent liver biopsy after histopathology analysis and classification of fibrosis according to Metavir score. Exon 1 was genotyped by melting temperature assay and the promoter region by Taqman real-time polymerase chain reacation. The frequency of genotypes related to low production of MBL was higher in patients with HCV than in controls (p(c) = 0.0001, odds ratio = 3.52; confidence interval = 1.86-6.71). In addition, the frequency of variant haplotype, HYO was higher in patients with the severe fibrosis stage F4 (10.7%) than in patients with the mild/moderate fibrosis stage F1/F2 (3.4%), when compared with the HYA haplotype (p(c) = 0.04, odds ratio = 5.25, confidence interval = 1.11-23.62). We conclude that MBL variant alleles expressing low levels of MBL are associated with the susceptibility to HCV infection and that the inheritance of HYO haplotype could be associated with fibrosis severity.
authors.affiliation: Postgraduate Program RENORBIO, Brazil; Institute of Biological Sciences, University of Pernambuco, Recife, Brazil.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Halla
authors.forename: Rodrigo Feliciano
authors.initials: RF
authors.lastname: do Carmo
authors.forename: Luydson Richardson
authors.initials: LR
authors.lastname: Silva Vasconcelos
authors.forename: Luciano Beltrão
authors.initials: LB
authors.lastname: Pereira
authors.forename: Patricia
authors.initials: P
authors.lastname: Moura
authors.forename: Erika Rabelo Forte
authors.initials: ER
authors.lastname: de Siqueira
authors.forename: Leila Maria Moreira Beltrão
authors.initials: LM
authors.lastname: Pereira
authors.forename: Maria do Socorro de
authors.initials: Mdo S
authors.lastname: Mendonça Cavalcanti
mesh_terms: D000328:Adult; D000368:Aged; D001938:Brazil; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D016174:Hepacivirus / Q000235:genetics; D006526:Hepatitis C / Q000150:complications* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin