@article {10770, title = {DEFB1 polymorphisms and HIV-1 mother-to-child transmission in Zambian population.}, journal = {J Matern Fetal Neonatal Med}, year = {2018}, month = {2018 Mar 20}, pages = {1-7}, abstract = {

INTRODUCTION: Human Beta Defensin-1 (hBD-1) is a component of the innate immune system, the first line of defence against pathogens, already reported as involved in the susceptibility to HIV-1 infection and HIV-1 mother-to-child transmission (MTCT) in different populations. We investigated the role of DEFB1 gene (encoding for hBD-1) functional polymorphisms in the susceptibility to HIV-1 MTCT in a population from Zambia.

METHODS: Four selected polymorphisms within DEFB1 gene, three at the 5{\textquoteright} untranslated region (UTR), namely -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362) and one in the 3{\textquoteright}UTR, c.*87A > G (rs1800972), were genotyped in 101 HIV-1 positive mothers (26 transmitters -27\% and 75 not transmitters -73\%) and 331 infants born to HIV-1 infected mothers (85 HIV-1 positive -26\% and 246 exposed but not infected -74\%).

RESULTS: DEFB1 c.*87-A allele was more frequent among HIV- children with respect to HIV+ (with intrauterine MTCT). Concerning DEFB1 haplotypes, GCGA haplotype resulted more represented in HIV- than HIV+ infants and DEFB1 ACGG haplotype presented increased frequency in HIV- children respect to HIV+ (with intra-partum MTCT) (p = .02, p = .002 and p = .006, respectively).

CONCLUSIONS: DEFB1 polymorphisms were significantly associated with decreased risk of HIV-1 infection acquisition in the studied Zambian population suggesting that they may play a role in HIV-1 MTCT.

}, issn = {1476-4954}, doi = {10.1080/14767058.2018.1449206}, author = {Zupin, Luisa and Polesello, Vania and Segat, Ludovica and Kamada, Anselmo Jiro and Kuhn, Louise and Crovella, Sergio} } @article {10471, title = {DEFB1 polymorphisms and salivary hBD-1 concentration in Oral Lichen Planus patients and healthy subjects.}, journal = {Arch Oral Biol}, volume = {73}, year = {2017}, month = {2017 Jan}, pages = {161-165}, abstract = {

OBJECTIVES: The aetiology of Oral Lichen Planus (OLP), a chronic inflammatory disease of oral mucosa, is not yet well understood. Since innate immunity may be hypothesized as involved in the susceptibility to OLP, we studied human beta defensin 1 (hBD-1) an antimicrobial peptide constitutively expressed in the saliva, looking at functional genetic variants possibly able to diminish hBD-1 production an consequently conferring major susceptibility to OLP.

DESIGN: We analysed three DEFB1 polymorphisms at 5{\textquoteright} UTR, -52G>A (rs1799946), -44C>G (rs1800972), -20G>A (rs11362) and two DEFB1 polymorphisms at 3{\textquoteright}UTR, c*5G>A (rs1047031), c*87A>G (rs1800971), with the aim of correlating these genetic variants and hBD-1 salivary level in a group of OLP patients and in healthy subjects. We also evaluated hBD-1 salivary concentrations, using ELISA, in OLP and healthy controls.

RESULTS: We compared hBD-1 concentrations in OLP and healthy subjects: hBD-1 concentration was significantly higher in OLP patients respect to control. When considering the correlation between DEFB1 polymorphisms genotypes and hBD-1 expression levels, significant results were obtained for SNPs -52G>A (p=0.03 both in OLP patients and healthy individuals) and -44C>G (p=0.02 in OLP patients).

CONCLUSIONS: hBD-1 production was different between OLP and healthy subjects (not age-matched with OLP). DEFB1 gene polymorphisms, -52G>A and -44C>G, correlated with hBD-1 salivary concentrations.

}, keywords = {5{\textquoteright} Untranslated Regions, Adult, Aged, Aged, 80 and over, beta-Defensins, Female, Genetic Predisposition to Disease, Genotype, Humans, Lichen Planus, Oral, Male, Middle Aged, Polymorphism, Single Nucleotide, Saliva, Sequence Analysis, DNA}, issn = {1879-1506}, doi = {10.1016/j.archoralbio.2016.10.008}, author = {Polesello, Vania and Zupin, Luisa and Di Lenarda, Roberto and Biasotto, Matteo and Pozzato, Gabriele and Ottaviani, Giulia and Gobbo, Margherita and Crovella, Sergio and Segat, Ludovica} } @article {8486, title = {DEFB1 polymorphisms and susceptibility to recurrent tonsillitis in Italian children.}, journal = {Int J Pediatr Otorhinolaryngol}, volume = {83}, year = {2016}, month = {2016 Apr}, pages = {12-5}, abstract = {

INTRODUCTION: The tonsils are secondary lymphoid organs fundamental for immune system response against pathogens within the oral cavity. Tonsillitis refers to inflammation of the pharyngeal tonsils that may include the adenoids and the lingual tonsils and that can be acute, recurrent, and chronic. Viral or bacterial infections, as well as immunologic factors are the main trigger to tonsillitis and disease{\textquoteright}s chronicity: the host immune responses, especially the innate one, could play an important role in susceptibility to the disease.

OBJECTIVES: The current study aims at investigating the role of functional polymorphisms in the 5{\textquoteright}UTR (c.-52G>A, c.-44G>C and c.-20G>A) of DEFB1 gene, encoding for the antimicrobial peptide human beta-defensin 1, in the predisposition to recurrent tonsillitis in children from North Eastern Italy.

RESULTS: No significant correlation was found between DEFB1 allele, genotype and haplotype frequencies and recurrent tonsillitis susceptibility with the exception of an increased risk to disease development in patients carrying DEFB1 rare haplotypes.

CONCLUSION: Our results may suggest that DEFB1 polymorphisms alone may not influence pathology susceptibility, however they could possibly concur, together with other factors involved in the genetic control of innate immune system, in the predisposition towards recurrent tonsillitis.

}, issn = {1872-8464}, doi = {10.1016/j.ijporl.2016.01.025}, author = {Zupin, Luisa and Polesello, Vania and Grasso, Domenico Leonardo and Crovella, Sergio and Segat, Ludovica} } @article {3623, title = {DEFB1 polymorphisms are involved in susceptibility to human papillomavirus infection in Brazilian gynaecological patients.}, journal = {Mem Inst Oswaldo Cruz}, volume = {109}, year = {2014}, month = {2014 Nov}, pages = {918-22}, 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{\textquoteright}UTR and c.*5G>A and c.*87A>G in the 3{\textquoteright}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.

}, keywords = {Adolescent, Adult, Aged, beta-Defensins, Brazil, Case-Control Studies, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Middle Aged, Papillomavirus Infections, Polymorphism, Single Nucleotide, Reproductive Tract Infections, Young Adult}, issn = {1678-8060}, author = {Segat, Ludovica and Zupin, Luisa and Moura, Ronald Rodrigues and Coelho, Ant{\^o}nio Victor Campos and Chagas, B{\'a}rbara Simas and de Freitas, Antonio Carlos and Crovella, Sergio} }