title: DEFB1 polymorphisms and salivary hBD-1 concentration in Oral Lichen Planus patients and healthy subjects.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors: Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy.
authors: Vania
authors: V
authors: Polesello
authors: Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy.
authors: Luisa
authors: L
authors: Zupin
authors: Division of Oral Medicine and Pathology, Dental Science Department, University of Trieste, Trieste, Italy.
authors: Roberto
authors: R
authors: Di Lenarda
authors: Division of Oral Medicine and Pathology, Dental Science Department, University of Trieste, Trieste, Italy.
authors: Matteo
authors: M
authors: Biasotto
authors: Department of Haematology, Ospedale Maggiore, Trieste, Italy.
authors: Gabriele
authors: G
authors: Pozzato
authors: Division of Oral Medicine and Pathology, Dental Science Department, University of Trieste, Trieste, Italy.
authors: Giulia
authors: G
authors: Ottaviani
authors: Division of Oral Medicine and Pathology, Dental Science Department, University of Trieste, Trieste, Italy.
authors: Margherita
authors: M
authors: Gobbo
authors: Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
authors: Sergio
authors: S
authors: Crovella
authors: Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy. Electronic address: ludovica.segat@burlo.trieste.it.
authors: Ludovica
authors: L
authors: Segat
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D017676:Lichen Planus, Oral / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012463:Saliva / Q000378:metabolism*; D017422:Sequence Analysis, DNA; D023083:beta-Defensins / Q000097:blood / Q000235:genetics* / Q000378:metabolism*
chemical_list: D020121:5' Untranslated Regions; C406407:DEFB1 protein, human; D023083:beta-Defensins
keywords: DEFB1; ELISA; Human beta defensin 1; Oral Lichen Planus; Polymorphisms; Saliva