title: High frequency of variant alleles of the mannose-binding lectin 2 (MBL2) gene are associated with patients infected by hepatitis B virus.
abstract: Patients with hepatitis B virus (HBV) infection may develop severe chronic liver disease. Carriers of HBV have an increased risk of developing cirrhosis, hepatic decompensation, and hepatocellular carcinoma. Worldwide an estimated 350 million people are infected with HBV, and 15-40% will develop serious sequelae in their lifetime. In our study we investigated the association of single nucleotide polymorphisms (SNPs) in the first exon and promoter region of the mannose-binding lectin gene 2 (MBL2) situated on chromosome 10, with susceptibility to HBV infection. One-hundred and two patients infected with HBV were included in this study, and 232 uninfected individuals were used as healthy controls. Genotyping of the first exon (alleles A/O) was performed using a melting temperature assay. Genotyping of the promoter region (-550 H/L; -221 Y/X) was performed using the Taqman PCR technique. In the HBV-infected group we found a significantly increased frequency of haplotypes associated with low serum MBL. Our findings may indicate that MBL has a protective role against HBV infection in the studied population.
authors: Biological Science Institute-University of Pernambuco (ICB-UPE), Recife, Pernambuco, Brazil.
authors: Roberto Magalhães
authors: RM
authors: Filho
authors: Rodrigo F
authors: RF
authors: Carmo
authors: Coriene
authors: C
authors: Catsman
authors: Carlos
authors: C
authors: Souza
authors: André
authors: A
authors: Silva
authors: Patrícia
authors: P
authors: Moura
authors: Artur L
authors: AL
authors: Tenorio
authors: Luydson R S
authors: LR
authors: Vasconcelos
authors: Maria Do Socorro M
authors: Mdo S
authors: Cavalcanti
authors: Leila M M B
authors: LM
authors: Pereira
mesh_terms: D000483:Alleles; D001938:Brazil; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006509:Hepatitis B / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007113:Immunity, Innate; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin