DEFB1 gene 5' untranslated region (UTR) polymorphisms in inflammatory bowel diseases
| Autor: | Ludovica Segat, Valentina Zanin, Lara Padovan, Sergio Crovella, N. A. C. Tavares, Anna Monica Bianco |
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| Přispěvatelé: | V., Zanin, Segat, Ludovica, A. M., Bianco, L., Padovan, N. d., Alencar, Crovella, Sergio |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Untranslated region DEFB1 inflammatory bowel diseases 5' UTR polymorphisms beta-Defensins Antimicrobial peptides Inflammation Biology Polymorphism Single Nucleotide Pathogenesis Immune system Crohn Disease inflammatory bowel disease medicine Humans Genetic Predisposition to Disease lcsh:R5-920 Polymorphism Genetic General Medicine medicine.disease Intestinal epithelium Ulcerative colitis Beta defensin Haplotypes Case-Control Studies Immunology Colitis Ulcerative Female medicine.symptom lcsh:Medicine (General) 5' Untranslated Regions Rapid Communication Antimicrobial Cationic Peptides |
| Zdroj: | Clinics; v. 67 n. 4 (2012); 395-398 Clinics; Vol. 67 Núm. 4 (2012); 395-398 Clinics; Vol. 67 No. 4 (2012); 395-398 Clinics Universidade de São Paulo (USP) instacron:USP Clinics, Volume: 67, Issue: 4, Pages: 395-398, Published: 2012 Clinics, Vol 67, Iss 4, Pp 395-398 (2012) |
| ISSN: | 1980-5322 1807-5932 |
| Popis: | Inflammatory bowel diseases (IBDs) are multifactorial disorders resulting from an abnormal immune response driven by the presence of normal luminal flora. IBDs are associated with the production of nonspecific mediators of inflammation that initiate inflammatory processes and tissue destruction ()()(1-3). Crohn's disease (CD) and ulcerative colitis (UC) are the two main forms of IBDs. An accepted hypothesis for IBD pathogenesis is that an uncorrected balance between the host defenses and the commensal microbiota in the gut of CD and UC patients might promote the disease by causing bacterial invasion, inflammation and loss of tolerance (4). A key role in the host defense is performed by the intestinal epithelium, which acts as a physical barrier that limits the access of enteric microbes that are able to produce endogenous antimicrobial peptides (AMPs) (5). Human defensins, which are classified as α-defensins (HDs) and β-defensins (HBDs) based on the arrangement of three disulfide bridges (6), are antimicrobial peptides that represent a wide spectrum of activity against pathogens. Human β-defensin-1 (hBD-1), the first described β-defensin, is characterized by antimicrobial, chemotactic and immuno-enhancing activities ()()(7-9). The hBD-1 protein, which is encoded by the DEFB1 gene (8p23.1), is constitutively expressed by epithelial cells of a wide variety of tissues, but its expression can vary between individuals and can be modified during the inflammatory process. A decrease in hBD-1 expression was reported in the mucosa of CD and UC patients ()()(10-12). Impaired production of defensins appears to contribute to the pathogenesis of IBDs (13,14), and a correlation between DEFB1 expression and single-nucleotide polymorphisms (SNPs) present in the regulatory region of the gene has been reported (15,16). Therefore, we analyzed the possible association of 5′ untranslated region (UTR) DEFB1 SNPs, namely c.-52G>A (rs1799946) c.-44C>G (rs1800972) and c.-20G>A (rs11362), with the susceptibility to inflammatory bowel diseases in a group of Italian IBD patients (CD and UC) and healthy control patients. |
| Databáze: | OpenAIRE |
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