DEFB1 polymorphisms and salivary hBD-1 concentration in Oral Lichen Planus patients and healthy subjects

Arch Oral Biol. 2017 Jan:73:161-165. doi: 10.1016/j.archoralbio.2016.10.008. Epub 2016 Oct 12.

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' UTR, -52G>A (rs1799946), -44C>G (rs1800972), -20G>A (rs11362) and two DEFB1 polymorphisms at 3'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: DEFB1; ELISA; Human beta defensin 1; Oral Lichen Planus; Polymorphisms; Saliva.

MeSH terms

  • 5' Untranslated Regions
  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Lichen Planus, Oral / genetics*
  • Lichen Planus, Oral / metabolism*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Saliva / metabolism*
  • Sequence Analysis, DNA
  • beta-Defensins / blood
  • beta-Defensins / genetics*
  • beta-Defensins / metabolism*

Substances

  • 5' Untranslated Regions
  • DEFB1 protein, human
  • beta-Defensins