title: Polymorphisms of beta defensins are associated with the risk of severe acute pancreatitis.
abstract: OBJECTIVE
  Bacterial translocation from the intestinal tract plays an important role in severe acute pancreatitis (AP). Human β-defensins are a family of antimicrobial peptides present at the mucosal surface. The aim of this study was to investigate the relevance of single nucleotide polymorphisms (SNPs) in the DEFB1 gene and copy number polymorphisms of the DEFB4 genes in AP.
  
  
  METHODS
  124 AP patients (30 with mild and 94 with severe disease) and 100 healthy controls were enrolled in the study. Three SNPs of the DEFB1 gene [G-20A (c.-20G→A), C-44G (c.-44C→G) and G-52A (c.-52G→A)] were genotyped by Custom TaqMan assay. The DEFB4 gene copy number was determined by means of a TaqMan real-time PCR assay.
  
  
  RESULTS
  Significantly higher frequencies of the AA genotype of G-20A (c.-20G→A) and the AA genotype of G-52A (c.-52G→A) were observed among the patients with severe AP (SAP) compared with the healthy controls (38 vs. 20 and 41 vs. 18%, respectively). The GG protective genotype of C-44G (c.-44C→G) SNP was much less frequent (1%) among the patients than among the controls (9%). A higher frequency of a lower (<4) copy number of the DEFB4 gene was observed in the patients with SAP compared with the healthy controls (62 vs. 24%, respectively).
  
  
  CONCLUSIONS
  The variations in the genes encoding human β-defensin-1 and -2 may be associated with the risk of SAP. and IAP.
authors: Department of Medical Microbiology and Immunology, University of Szeged, Szeged, Hungary.
authors: Z
authors: Z
authors: Tiszlavicz
authors: A
authors: A
authors: Szabolcs
authors: T
authors: T
authors: Takács
authors: G
authors: G
authors: Farkas
authors: R
authors: R
authors: Kovács-Nagy
authors: E
authors: E
authors: Szántai
authors: M
authors: M
authors: Sasvári-Székely
authors: Y
authors: Y
authors: Mándi
mesh_terms: D000681:Amylases / Q000097:blood; D056915:DNA Copy Number Variations; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D019283:Pancreatitis, Acute Necrotizing / Q000097:blood / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D023083:beta-Defensins / Q000097:blood / Q000235:genetics*
chemical_list: C406407:DEFB1 protein, human; C106641:DEFB4A protein, human; D023083:beta-Defensins; D000681:Amylases