Polesello Vania, Zupin Luisa, Di Lenarda Roberto, Biasotto Matteo, Pozzato Gabriele, Ottaviani Giulia, Gobbo Margherita, Crovella Sergio, Segat Ludovica
Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy.
Division of Oral Medicine and Pathology, Dental Science Department, University of Trieste, Trieste, Italy.
Arch Oral Biol. 2017 Jan;73:161-165. doi: 10.1016/j.archoralbio.2016.10.008. Epub 2016 Oct 12.
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.
We analysed three DEFB1 polymorphisms at 5' UTR, -52G>A (rs1799946), -44C>G (rs1800972), -20G>A (rs11362) and two DEFB1 polymorphisms at 3'UTR, c5G>A (rs1047031), c87A>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.
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).
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.
口腔扁平苔藓(OLP)是一种口腔黏膜慢性炎症性疾病,其病因尚未完全明确。由于先天免疫可能被认为与OLP易感性有关,我们研究了人类β-防御素1(hBD-1),一种在唾液中组成性表达的抗菌肽,观察可能能够减少hBD-1产生从而导致对OLP易感性增加的功能性基因变异。
我们分析了DEFB1基因5'非翻译区的三个多态性位点,即-52G>A(rs1799946)、-44C>G(rs1800972)、-20G>A(rs11362)以及3'非翻译区的两个多态性位点,即c5G>A(rs1047031)、c87A>G(rs1800971),目的是将这些基因变异与一组OLP患者和健康受试者的hBD-1唾液水平进行关联分析。我们还使用酶联免疫吸附测定法(ELISA)评估了OLP患者和健康对照者的hBD-1唾液浓度。
我们比较了OLP患者和健康受试者的hBD-1浓度:OLP患者的hBD-1浓度显著高于对照组。在考虑DEFB1多态性基因型与hBD-1表达水平之间的相关性时,发现单核苷酸多态性位点-52G>A(OLP患者和健康个体中p均为0.03)和-44C>G(OLP患者中p为0.02)有显著结果。
OLP患者与健康受试者(年龄与OLP患者不匹配)之间hBD-1的产生存在差异。DEFB1基因多态性位点-52G>A和-44C>G与hBD-1唾液浓度相关。