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Impact of DEFB1 gene regulatory polymorphisms on hBD-1 salivary concentration

2015; Elsevier BV; Volume: 60; Issue: 7 Linguagem: Inglês

10.1016/j.archoralbio.2015.03.009

1879-1506

Vania Polesello, Luisa Zupin, Roberto Di Lenarda, Matteo Biasotto, Giulia Ottaviani, Margherita Gobbo, Luca Cecco, Giulia Alberi, Gabriele Pozzato, Sérgio Crovella, Ludovica Segat,

Biochemical and Structural Characterization

Human β-defensin 1 (hBD-1) is an antimicrobial peptide involved in epithelial defence of various tissues, also present in the saliva. Individual genetic variations within the DEFB1 gene, encoding for hBD-1, could influence gene expression and protein production.Three DEFB1 polymorphisms at 5' untranslated region (UTR), -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362), and two polymorphisms at DEFB1 3' UTR, c*5G > A (rs1047031) and c*87A > G (rs1800971), were analysed by direct sequencing and correlated with hDB-1 salivary concentration (tested with enzyme-linked immunosorbent assay (ELISA)) in 40 healthy subjects.Significant associations were found between individuals presenting different DEFB1 polymorphisms at positions -52 and -44 of the gene and hBD-1 salivary concentrations: -52 G/G carriers had higher levels of protein than G/A and A/A; -44C/G subjects showed a higher protein concentration than homozygous wild-type C/C. For the -20G > A, c*5G > A and c*87A > G polymorphisms, no statistically significant differences were found. Combined haplotype analysis confirmed the results obtained considering the single-nucleotide polymorphisms (SNPs) singularly.Polymorphisms in the DEFB1 gene influence hBD-1 production and, therefore, could modify the innate immune system responses and, consequently, the oral health.