title: Genetic factors in mother-to-child transmission of HCV infection.
abstract: HCV infection transmission rate in infants born to HCV-positive mothers is about 5%. HIV co-infection and high maternal RNA viral load are associated with increased transmission. The only genetic factor previously evaluated is HLA. We investigated the role of genetic factors already associated in adults with HCV infection evolution (HLA-DRB1, MBL2, TNF-alpha, IFN-gamma and IL-10), or liver disease progression (HFE and TGF-beta1). 384 Italian subjects were recruited, including 38 HCV-positive mother/child pairs; 104 infected, non-transmitting mothers with their 114 children; 21 vertically infected children and 69 HCV-exposed, uninfected children. Samples were analysed for previously described gene polymorphisms. Maternal HLA-DRB104 correlated with protection from vertical transmission (p=0.023), while HLA-DRB110 in children was a risk factor (p=0.036). Investigation of concordance degree in HLA-DRB1 locus revealed that a HLA mismatch between mother and child was a protective factor (p=0.017) indicating that alloreactive immune responses are involved in preventing HCV vertical transmission.
authors.affiliation: Servizio di Genetica Medica, I.R.C.C.S. Burlo Garofolo, Via dell'Istria 65/1, 34137 Trieste, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Bevilacqua
authors.forename: Annalisa
authors.initials: A
authors.lastname: Fabris
authors.forename: Paolo
authors.initials: P
authors.lastname: Floreano
authors.forename: Lucy
authors.initials: L
authors.lastname: Pembrey
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Newell
authors.forename: Pier-Angelo
authors.initials: PA
authors.lastname: Tovo
authors.forename: Antonio
authors.initials: A
authors.lastname: Amoroso
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D016207:Cytokines / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications* / Q000235:genetics / Q000276:immunology / Q000635:transmission*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D037601:Mannose-Binding Lectin / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000235:genetics* / Q000276:immunology; D012307:Risk Factors
chemical_list: D016207:Cytokines; D017931:DNA Primers; C103673:HFE protein, human; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D008565:Membrane Proteins