title: DEFB1 polymorphisms are involved in susceptibility to human papillomavirus infection in Brazilian gynaecological patients.
abstract: The human beta defensin 1 (hBD-1) antimicrobial peptide is a member of the innate immune system known to act in the first line of defence against microorganisms, including viruses such as human papillomavirus (HPV). In this study, five functional polymorphisms (namely g-52G>A, g-44C>G and g-20G>A in the 5'UTR and c.*5G>A and c.*87A>G in the 3'UTR) in the DEFB1 gene encoding for hBD-1 were analysed to investigate the possible involvement of these genetic variants in susceptibility to HPV infection and in the development of HPV-associated lesions in a population of Brazilian women. The DEFB1 g-52G>A and c.*5G>A single-nucleotide polymorphisms (SNPs) and the GCAAA haplotype showed associations with HPV-negative status; in particular, the c.*5G>A SNP was significantly associated after multiple test corrections. These findings suggest a possible role for the constitutively expressed beta defensin-1 peptide as a natural defence against HPV in the genital tract mucosa.
authors.affiliation: Institute for Maternal and Child Health Burlo Garofolo, Trieste, Italy.
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.affiliation: Institute for Maternal and Child Health Burlo Garofolo, Trieste, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Zupin
authors.affiliation: Laboratório de Patologia e Medicina Genômica, Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
authors.forename: Ronald Rodrigues
authors.initials: RR
authors.lastname: Moura
authors.affiliation: Laboratório de Patologia e Medicina Genômica, Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
authors.forename: Antonio Victor Campos
authors.initials: AV
authors.lastname: Coelho
authors.affiliation: Laboratório de Estudos Moleculares e Terapia Experimental, Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
authors.forename: Bárbara Simas
authors.initials: BS
authors.lastname: Chagas
authors.affiliation: Laboratório de Estudos Moleculares e Terapia Experimental, Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
authors.forename: Antonio Carlos
authors.initials: AC
authors.lastname: de Freitas
authors.affiliation: Laboratório de Patologia e Medicina Genômica, Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D030361:Papillomavirus Infections / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D060737:Reproductive Tract Infections / Q000821:virology*; D055815:Young Adult; D023083:beta-Defensins / Q000235:genetics*
chemical_list: C406407:DEFB1 protein, human; D023083:beta-Defensins