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Hum Immunol. 2011 Oct;72(10):912-5. doi: 10.1016/j.humimm.2011.06.016. Epub 2011 Jul 31.

MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection.

Author information

1
Department of Medical Pathology, Hospital de Clinicas, Federal University of Paran√°, Curitiba, PR, Brazil.

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.

PMID:
21843573
DOI:
10.1016/j.humimm.2011.06.016
[Indexed for MEDLINE]

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