DEFB1 gene polymorphisms and tuberculosis in a Northeastern Brazilian population

Abstract

β-Defensin-1, an antimicrobial peptide encoded by the DEFB1 gene, is known to play an important role in lung mucosal immunity. In our association study we analyzed three DEFB1 functional polymorphisms −52G>A (rs1799946), −44C>G (rs1800972) and −20G>A (rs11362) in 92 tuberculosis patients and 286 healthy controls, both from Northeast Brazil: no association was found between the studied DEFB1 polymorphisms and the disease. However we cannot exclude that this lack of association could be due to the low number of subjects analyzed, as suggested by the low statistical power achieved for the three analyzed SNPs (values between 0.16 and 0.50).

Human beta-defensin-1 rs2738047 polymorphism is associated with shisha smoking risk among Saudi population

“…Human beta-defensin-1 is a class of the defensin family and has the ability to directly or indirectly inactivate or kill a broad spectrum of fungi and bacteria by triggering innate and adaptive immune responses (Aerts et al 2008 ; Harder et al 2007 ). This gene is located at 8p22-23 (Celerino Da Silva et al 2016 ) and is considered to be an essential antimicrobial peptide among epithelial and salivary defenses (Polesello et al 2015 ). The expression of HBD-1 has been observed in the epidermis, sebaceous glands, and sweats ducts, and might also be induced by pathogenic molecules such as peptidoglycans and lipopolysaccharides (LPSs) (Sorensen et al 2005 ).…”

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 …”