RGD Reference Report - Mannan-binding lectin MBL2 gene polymorphism in chronic hepatitis C: association with the severity of liver fibrosis and response to interferon therapy. - Rat Genome Database

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Mannan-binding lectin MBL2 gene polymorphism in chronic hepatitis C: association with the severity of liver fibrosis and response to interferon therapy.

Authors: Alves Pedroso, M L  Boldt, A B W  Pereira-Ferrari, L  Steffensen, R  Strauss, E  Jensenius, J C  Ioshii, S O  Messias-Reason, I 
Citation: Alves Pedroso ML, etal., Clin Exp Immunol. 2008 May;152(2):258-64. doi: 10.1111/j.1365-2249.2008.03614.x. Epub 2008 Mar 10.
RGD ID: 14696820
Pubmed: PMID:18336595   (View Abstract at PubMed)
PMCID: PMC2384100   (View Article at PubMed Central)
DOI: DOI:10.1111/j.1365-2249.2008.03614.x   (Journal Full-text)

Hepatitis C virus (HCV) is a major cause of hepatic disease and of liver transplantation worldwide. Mannan-binding lectin (MBL), encoded by the MBL2 gene, can have an important role as an opsonin and complement activating molecule in HCV persistence and liver injury. We assessed the MBL2 polymorphism in 102 Euro-Brazilian patients with moderate and severe chronic hepatitis C, paired for gender and age with 102 HCV seronegative healthy individuals. Six common single nucleotide polymorphisms in the MBL2 gene, three in the promoter (H/L, X/Y and P/Q) and three in exon 1 (A, the wild-type, and B, C or D also known as O) were evaluated using real-time polymerase chain reaction with fluorescent hybridization probes. The concentration of MBL in plasma was measured by enzyme-linked immunosorbent assay. The frequency of the YA/YO genotype was significantly higher in the HCV patients compared with the controls (P = 0.022). On the other hand, the genotypes associated with low levels of MBL (XA/XA, XA/YO and YO/YO) were decreased significantly in the patients with severe fibrosis (stage F4), when compared with the patients with moderate fibrosis (stage F2) (P = 0.04) and to the control group (P = 0.011). Furthermore, MBL2 genotypes containing X or O mutations were found to be associated with non-responsiveness to pginterferon and ribavirin treatment (P = 0.023). MBL2 polymorphisms may therefore be associated not only with the development of chronic hepatitis C, but also with its clinical evolution and response to treatment.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Chronic Hepatitis C treatmentIAGP 14696820DNA:SNPs:promoter and exon:RGD 
Chronic Hepatitis C treatmentISOMBL2 (Homo sapiens)14696820; 14696820DNA:SNPs:promoter and exon:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
MBL2  (mannose binding lectin 2)


Additional Information