title: MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection.
abstract: Hepatitis C virus (HCV) has become a major public health issue and is prevalent in most countries. We examined several MASP2 functional polymorphisms in 104 Brazilian patients with moderate and severe chronic hepatitis C using the primers set to amplify the region encoding the first domain (CUB1), a critical region for the formation of functional mannan-binding lectin (MBL)/MBL-associated serine proteases (MASP)-2 complexes, and the fifth domain (CCP2), which is essential for C4 cleavage of the MASP2 gene. We identified five single nucleotide polymorphisms in patients and controls: p. R99Q, p. D120G, p.P126L, p.D371Y, and p.V377A. Our results show that the p.D371Y variant (c.1111 G > T) is associated with susceptibility to HCV infection (p = 0.003, odds ratio = 6.33, 95% confidence interval = 1.85-21.70). Considered as a dominant function for the T allele, this variant is associated with high plasma levels of the MASP-2 in hepatitis C patients (p < 0.001). However, further functional investigations are necessary to understand the degree of involvement between MASP2 and the HCV susceptibility.
authors.affiliation: Department of Medical Pathology, Hospital de Clinicas, Federal University of Paraná, Curitiba, PR, Brazil.
authors.forename: Siumara
authors.initials: S
authors.lastname: Tulio
authors.forename: Fabio R
authors.initials: FR
authors.lastname: Faucz
authors.forename: Renata I
authors.initials: RI
authors.lastname: Werneck
authors.forename: Márcia
authors.initials: M
authors.lastname: Olandoski
authors.forename: Rodrigo B
authors.initials: RB
authors.lastname: Alexandre
authors.forename: Angélica B W
authors.initials: AB
authors.lastname: Boldt
authors.forename: Maria Lucia
authors.initials: ML
authors.lastname: Pedroso
authors.forename: Iara J
authors.initials: IJ
authors.lastname: de Messias-Reason
mesh_terms: D001938:Brazil / Q000453:epidemiology; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D016174:Hepacivirus / Q000502:physiology*; D019698:Hepatitis C, Chronic / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D050606:Mannose-Binding Protein-Associated Serine Proteases / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary / Q000235:genetics*; D044465:White People
chemical_list: D017931:DNA Primers; C105296:MASP2 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases