title: Mannose-binding lectin MBL2 gene polymorphisms and outcome of hepatitis C virus-infected patients.
abstract: BACKGROUND
  Mannose-binding lectin (MBL) is involved in host's response to several infections including hepatitis B but little is known about MBL and hepatitis C virus (HCV) infection. The present study attempts to investigate whether MBL2 genotype and serum MBL levels affect the course of HCV infection.
  
  
  CONCLUSIONS
  We investigated the variant alleles in MBL2 gene promoter and exon-1 regions in 80 Caucasian HCV-infected patients. Mutations in MBL2 were determined by polymerase chain reaction and restriction fragment length polymorphisms analysis. Serum MBL levels were measured by ELISA. Polymorphism homozygosity in exon-1 region was significantly related to lower serum MBL levels (p < 0.001), to liver inflammation (p = 0.034, OR = 11.7) and, in a lesser degree, to fibrosis. Polymorphisms in promoter sites -221nt and -550nt were not shown to be related with serum MBL levels or progress to liver inflammation and fibrosis. Serum MBL levels were adversely associated with progression to fibrosis (p = 0.037). Response to antiviral treatment was related to hepatitis C virus genotype (p < 0.001, OR = 10.9), but not to MBL2 genotype or serum MBL levels.
  
  
  CONCLUSIONS
  These findings suggest that polymorphisms in MBL2 gene exon-1 region are related to low serum MBL levels and progression of HCV infection to liver inflammation and fibrosis.
authors.affiliation: Laboratory of Internal Medicine, Faculty of Medicine, University of Crete, P.O. Box 2208, Heraklion 710 03, Greece. eirkou@hotmail.com
authors.forename: Eirini
authors.initials: E
authors.lastname: Koutsounaki
authors.forename: George N
authors.initials: GN
authors.lastname: Goulielmos
authors.forename: Mary
authors.initials: M
authors.lastname: Koulentaki
authors.forename: Christianna
authors.initials: C
authors.lastname: Choulaki
authors.forename: Elias
authors.initials: E
authors.lastname: Kouroumalis
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Galanakis
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D016174:Hepacivirus / Q000276:immunology*; D006526:Hepatitis C / Q000150:complications / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D044465:White People
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin