OBJECTIVE: It has been suggested that deficient defensin expression is associated with the chronic inflammation of Crohn's disease. The regional localization of Crohn's disease, ileal or colonic disease can be linked to different defensin profiles. As constitutive beta-defensin 1 has a colonic expression, we considered it of interest to investigate single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) in Crohn's disease. MATERIAL AND METHODS: Three SNPs of the DEFB1 gene, DEFB1 G-20A (rs11362), DEFB1 C-44G (rs1800972) and DEFB1 G-52A (rs1799946), were genotyped either by Custom TaqMan SNP genotyping assays or by restriction fragment length polymorphisms (RFLP) in 190 patients with Crohn's disease and 95 Hungarian controls. RESULTS: It was found that the G-20A and C-44G SNPs had a strong association with the colonic and ileocolonic localizations of the disease, respectively, but no association was detected for the ileal localization. A significantly higher frequency of the GA genotype of G-20A was observed among patients with colonic localization (60%) as compared with healthy controls (39%), with an odds ratio (OR) of 2.39. The GG genotype of C-44G SNP, which is regarded as a protective genotype, was much less frequent (4%) among patients than among controls (12%), OR 3.367. CONCLUSIONS: These results indicate that genetic variations in the DEFB1 gene encoding constitutive human beta-defensin 1 may be associated with the risk for Crohn's disease and may determine disease phenotype, e.g. colonic localization.
OBJECTIVE: It has been suggested that deficient defensin expression is associated with the chronic inflammation of Crohn's disease. The regional localization of Crohn's disease, ileal or colonic disease can be linked to different defensin profiles. As constitutive beta-defensin 1 has a colonic expression, we considered it of interest to investigate single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) in Crohn's disease. MATERIAL AND METHODS: Three SNPs of the DEFB1 gene, DEFB1 G-20A (rs11362), DEFB1C-44G (rs1800972) and DEFB1 G-52A (rs1799946), were genotyped either by Custom TaqMan SNP genotyping assays or by restriction fragment length polymorphisms (RFLP) in 190 patients with Crohn's disease and 95 Hungarian controls. RESULTS: It was found that the G-20A and C-44G SNPs had a strong association with the colonic and ileocolonic localizations of the disease, respectively, but no association was detected for the ileal localization. A significantly higher frequency of the GA genotype of G-20A was observed among patients with colonic localization (60%) as compared with healthy controls (39%), with an odds ratio (OR) of 2.39. The GG genotype of C-44G SNP, which is regarded as a protective genotype, was much less frequent (4%) among patients than among controls (12%), OR 3.367. CONCLUSIONS: These results indicate that genetic variations in the DEFB1 gene encoding constitutive humanbeta-defensin 1 may be associated with the risk for Crohn's disease and may determine disease phenotype, e.g. colonic localization.
Authors: Matthias Zilbauer; Andreas Jenke; Gundula Wenzel; Jan Postberg; Andreas Heusch; Alan D Phillips; Gabriele Noble-Jamieson; Franco Torrente; Camilla Salvestrini; Robert Heuschkel; Stefan Wirth Journal: PLoS One Date: 2010-10-22 Impact factor: 3.240
Authors: Renata Cimőes; Rafael Rafael Amorim Cavalcanti de Siqueira; Sergio Crovella; Paulo Roberto Eleutério de Souza; Nikos Donos Journal: Acta Stomatol Croat Date: 2014-09
Authors: Andrea A Kalus; L Page Fredericks; Beth M Hacker; Henrik Dommisch; Richard B Presland; Janet R Kimball; Beverly A Dale Journal: BMC Oral Health Date: 2009-08-27 Impact factor: 2.757