DEFB1 gene 5′ untranslated region (UTR) polymorphisms in inflammatory bowel diseases

Association of human beta-defensin 1 gene polymorphisms with nonsegmental vitiligo

“…Following age/sex adjustment, we found that the ‐20 AA genotype confers protection against vitiligo (Table ), contrasting with previous observations for SLE, T1D and Crohn disease,; but in agreement with a report on AD, which found the ‐20 GG genotype to be a genetic risk factor . In this context, Zanin et al .…”

“…oxidative stress, high levels of IL-6, IL-8 and heatshock protein 70) would promote initial autoantigen presentation and depigmentation flares, respectively, 5,9 a model similar to that previously suggested by Prado-Montes de Oca et al for atopic dermatitis. 22 Following age/sex adjustment, we found that the -20 AA genotype confers protection against vitiligo ( Table 2), contrasting with previous observations for SLE, T1D and Crohn disease, 15,17,23 ; but in agreement with a report on AD, which found the -20 GG genotype to be a genetic risk factor. 22 In this context, Zanin et al mentioned that the -20 A allele appears to be related to lower both HBD-1 and gene expression at the tissue level, 23 which might also explain its role as a risk factor for human immunodeficiency virus infection.…”

“…In this context, Zanin et al . mentioned that the ‐20 A allele appears to be related to lower both HBD‐1 and gene expression at the tissue level, which might also explain its role as a risk factor for human immunodeficiency virus infection . Nevertheless, recent research has failed to prove such an effect on HBD‐1 levels, meaning that the DEFB1 ‐20G/A polymorphism needs to be investigated further regarding its functional role …”

DEFB1 gene 5′ untranslated region (UTR) polymorphisms are marginally involved in inflammatory bowel disease in south Brazilians

“…When looking at our and the other results in the literature (Kocsis et al . ; Zanin et al ., ; Peyrin‐Biroulet et al ., ), it appears that a clear strong association between functional 5′‐UTR DEFB1 SNPs and susceptibility/protection to IBDs cannot be drawn; nonetheless, some association does exist, especially with the colonic localization of coeliac disease.…”

Evaluation of DEFB1 polymorphisms in individuals with chronic periodontitis and diabetes mellitus type 2 in a population of northeastern Brazil

“…Single nucleotide polymorphisms (SNPs), located at the 5′‐untranslated (5′UTR) region of DEFB1 at positions ‐52 G > A (rs1799946), ‐44 C > G (rs1800972), and ‐20 G > A (rs11362), are known to be related to the gene expression modulation and associated with some infectious and/or inflammatory diseases, such as periodontitis, human immunodeficiency virus type 1 infection (HIV‐1), increased levels of Candida albicans in the mouth, systemic lupus erythematosus, and inflammatory bowel diseases . Other studies did not obtain significant associations between theses SNPs and susceptibility to tuberculosis, early‐onset periodontitis, and CP in type 2 diabetics individuals …”