MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection.
Hum Immunol
; 72(10): 912-5, 2011 Oct.
Article
em En
| MEDLINE
| ID: mdl-21843573
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Estrutura Terciária de Proteína
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Hepacivirus
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Hepatite C Crônica
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Predisposição Genética para Doença
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População Branca
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Serina Proteases Associadas a Proteína de Ligação a Manose
Tipo de estudo:
Risk_factors_studies
Limite:
Female
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Humans
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Male
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Middle aged
País como assunto:
America do sul
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Brasil
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article