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Animal Tuberculosis
Published in Lloyd N. Friedman, Martin Dedicoat, Peter D. O. Davies, Clinical Tuberculosis, 2020
Several candidate genes are being assessed for their use as genetic markers of M. bovis. Once these genes are discovered, the aim is to assess whether they have the potential to alter the disease phenotype of cattle. One marker gene includes the bovine natural resistance-associated macrophage protein gene (NRAMP1), which has been ubiquitously identified in mice models and humans. The survival of M. bovis BCG appears to be linked to the presence of a resistant allele of this gene.98 Small comparative epidemiologic studies have been carried out to examine plausible genes within cattle populations, however these are normally scientifically underpowered to determine significant associations.
Human Genetic Variability and Susceptibility to Infectious Diseases
Published in Thomas R. O’Brien, Chemokine Receptors and AIDS, 2019
The profound influence of the genetic makeup of the host on resistance to infections has been established in experiments on animals (1,2) in which disease phenotypes, environmental factors, and mating can be controlled. Furthermore, the recent development of gene knockout, mutant, and transgenic mice has advanced the genetic analysis of complex traits involved in susceptibility and resistance to infectious pathogens (2,3). One important result of these developments was the isolation of the Lsh/Ity/Bcg gene (on mouse chromosome 1) which controls innate susceptibility to several intracellular pathogens [reviewed in (2,4)]. This gene was subsequently identified and designated Nrampl (natural resistance associated macrophage protein 1) (5).
Epidemiology
Published in Peter D O Davies, Stephen B Gordon, Geraint Davies, Clinical Tuberculosis, 2014
Besides environmental factors and concomitant illness, infection and the progression to active TB are also under human genetic control [68]. That TB runs in families is well known, but this observation confounds genes and transmission. Among the genes that have been associated with susceptibility to TB by more discerning methods (e.g. twin studies, case control studies) are those encoding the vitamin D receptor, natural-resistance-associated macrophage protein (NRAMP1), human leukocyte antigen (HLA) and mannose-binding lectin (MBL) [69–75]. Associations between human genetic polymorphisms and disease risk, clinical presentation or outcome are typically determined by the interactions between genes and their environment [76,77], and investigations of genetic determinants have not always yielded consistent results, as illustrated by studies of vitamin D receptor polymorphisms [74,78].
Protective association of A-T-T haplotype of DMT1 gene against risk of human age-related nuclear cataract
Published in Ophthalmic Genetics, 2019
Rajkumar Sankaranarayanan, Nair Gopinathan Vidya, Abhay Raghukant Vasavada
Divalent metal transporter 1 (DMT1), an isoform of natural resistance-associated macrophage protein 2 (NRAMP2), mediates transport of ferrous iron from the lumen of the intestine into the enterocyte and export of iron from endocytic vesicles. It has an affinity not only for iron but also for other divalent cations including cadmium, cobalt, copper, lead, manganese, nickel, and zinc. DMT1 gene is located on chromosome 12q13 in humans and expresses four major isoforms; two with iron-responsive elements (1A/+IRE and 2/+IRE) and two without iron-responsive elements (1A/-IRE, and 2/-IRE) (34). Mutations or polymorphisms of DMT1 gene may have an impact on human health by disturbing metal trafficking (34,35) and augmenting systemic and tissue overload of divalent metal ions (36). Association of different genetic polymorphisms of DMT1 with age-related macular degeneration (37), Alzheimer’s disease (38), hereditary hemochromatosis (39), microcytic anemia (40,41), Parkinson’s disease (42), and Wilson’s disease (43) have been reported.
Is individual genetic susceptibility a link between silica exposure and development or severity of silicosis? A systematic review
Published in Inhalation Toxicology, 2020
Kaio Cezar Rodrigues Salum, Marcos Cesar Santos Castro, Ângela Santos Ferreira Nani, Fabiana Barzotto Kohlrausch
The natural-resistance-associated macrophage protein 1 (NRAMP1) is a protein that plays a role in macrophage activation (Goswami et al. 2001), and the nitric oxide synthase 2 is an enzyme responsible for catalyzing Nitric Oxide (NO) synthesis in response to silica (Srivastava et al. 2002). Qu et al. (2007) observed a significant protective effect of the CT and TT genotypes in the NOS2 Ser608Leu polymorphism to silicosis in the Chinese population, when controlling for confounders, but no significant associations were observed with NRAMP1 D543N and INT4 polymorphisms.
Impact of bacterial infections on erythropoiesis
Published in Expert Review of Anti-infective Therapy, 2021
Lara Valente de Souza, Alexander Hoffmann, Günter Weiss
The macrophage phagolysosomal protein natural resistance-associated macrophage protein-1 (Nramp1 or Slc11a1) confers resistance to intracellular bacteria such as Salmonella or Mycobacteria and is an antiporter of protons and metal ions including iron [46,47]. Thereby it reduces iron access for intramacrophage bacteria and strengthens anti-microbial immune effector pathways, in part also by stimulating Lcn2 expression [48,49].