AIMS: 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.
AIMS: 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: Zsolt Ronai; Reka Kovacs-Nagy; Eszter Szantai; Zsuzsanna Elek; Maria Sasvari-Szekely; Gabor Faludi; Judit Benkovits; Janos M Rethelyi; Anna Szekely Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2014-02-21 Impact factor: 3.568
Authors: Stefan Taudien; Gabor Gäbel; Oliver Kuss; Marco Groth; Robert Grützmann; Klaus Huse; Alexander Kluttig; Andreas Wolf; Michael Nothnagel; Philip Rosenstiel; Karin Halina Greiser; Karl Werdan; Michael Krawczak; Christian Pilarsky; Matthias Platzer Journal: BMC Res Notes Date: 2012-11-13
Authors: Dongling Liu; Linlin Wen; Zhandong Wang; Yang Hai; Dan Yang; Yanying Zhang; Min Bai; Bing Song; Yongfeng Wang Journal: Front Med (Lausanne) Date: 2022-07-07