Natural resistance-associated macrophage protein 1 gene polymorphisms in rheumatoid arthritis

2006 ◽  
Vol 102 (1) ◽  
pp. 91-97 ◽  
Author(s):  
J YEN ◽  
C LIN ◽  
W TSAI ◽  
T OU ◽  
C WU ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Polymorphisms ◽  
Natural Resistance ◽  
Macrophage Protein

scholarly journals Natural resistance-associated macrophage protein 1 gene polymorphisms in thalassemia patients with tuberculosis infection

2016 ◽  
Vol 56 (2) ◽  
pp. 84 ◽  
Author(s):  
Mohammad Ghozali ◽  
Sari Puspa Dewi ◽  
Reni Ghrahani ◽  
Ani Melani Maskoen ◽  
Lelani Reniarti ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Gene Polymorphisms ◽  
Serum Iron ◽  
Binding Capacity ◽  
Iron Status ◽  
Major Gene ◽  
Natural Resistance ◽  
Cross Sectional ◽  
Metal Transporter ◽  
Macrophage Protein

that needs regular blood transfusions leading to accumulation of iron in the cells. This iron overload level in macrophage might cause intracellular bacteria, particularly Mycobacterium tuberculosis (MTB) to multiply. Polymorphisms in natural resistance-associated macrophage protein 1 (NRAMP1), a metal transporter across the phagosome membrane, play important role in regulating iron, which is also needed by MTB. Increased iron in thalassemia patients may have an increased potential risk for TB.Objective To compare natural resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms (INT4, D543N, and 3’UTR) in thalassemia patients with and without tuberculosis (TB) infection.Methods A cross-sectional measurement of NRAMP1 genetic polymorphisms was performed in pediatric thalassemia patients with TB (n=40) and without TB (n=50). Iron status including serum iron, total iron-binding capacity (TIBC), and ferritin, was compared between the two groups. The NRAMP1 genetic polymorphisms were analysed using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Allelic and genotypic distributions of each polymorphism were assessed for possible associations with TB infection.Results Mean serum iron and TIBC in thalassemia patients with TB were higher compared to thalassemia patients without TB (mean serum: 166.26 vs. 134.92 μmol/L, respectively; P=0.026) and (mean TIBC: 236.78 vs. 195.84 μmol/L, respectively; P=0.029). In thalassemia patients with TB, we observed significantly higher frequency of the C allele in INT4 (10% vs. 2%, respectively; OR=5.44; 95%CI 1.1 to 26.4; P=0.02) and the TGTG deletion allele (78.8% vs. 51%, respectively; OR=3.56; 95%CI 1.83 to 6.9; P=0.0002) in 3’UTR polymorphisms than in thalassemia patients without TB. There were no significant differences in distributions of the A allele between TB and non-TB groups (16.3% vs. 15%, respectively; P=0.84) or the GA genotype (32.5% vs. 30%, respectively; P=0.79) in D543N.Conclusion The NRAMP1 polymorphisms are known to be associated with major gene susceptibility to TB, and in our thalassemia patients this association is even more pronounced.

Effects of natural resistance-associated macrophage protein 1 and toll-like receptor 2 gene polymorphisms on post-weaning piglet survivability

2015 ◽  
Vol 38 (2) ◽  
pp. 171-178 ◽  
Author(s):  
Hye-sun Cho ◽  
Won Kim ◽  
Min-Kyung Choi ◽  
Minh Thong Le ◽  
HoJun Choi ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Natural Resistance ◽  
Toll Like Receptor ◽  
Toll Like Receptor 2 ◽  
Macrophage Protein

scholarly journals NRAMP1andVDRGene Polymorphisms in Susceptibility to Tuberculosis in Venezuelan Population

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Mercedes Fernández-Mestre ◽  
Ángel Villasmil ◽  
Howard Takiff ◽  
Zhenia Fuentes Alcalá
Keyword(s):  
Vitamin D ◽  
Mycobacterium Tuberculosis ◽  
Adaptive Immunity ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Natural Resistance ◽  
Diverse Populations ◽  
Innate And Adaptive Immunity ◽  
Macrophage Protein ◽  
Venezuelan Population

Natural resistance-associated macrophage protein (Nramp1) and the vitamin D receptor (VDR) are central components of the innate and adaptive immunity againstMycobacterium tuberculosis, and associations between susceptibility to tuberculosis and polymorphisms in the genesNRAMPandVDRhave been sought in geographically diverse populations. We investigated associations ofNRAMP1andVDRgene polymorphisms with susceptibility to TB in the Venezuelan population. The results suggest the absence of any association betweenVDRvariantsFokI, ApaI, andTaqIand susceptibility to tuberculosis. In contrast, theNRAMP1 3′UTRvariants were associated with susceptibility toM. tuberculosisinfection, as seen in the comparisons between TST+ and TST− controls, and also with progression to TB disease, as shown in the comparisons between TB patients and TST+ controls. This study confirms the previously described association of theNRAMP1 3′UTRpolymorphism withM. tuberculosisinfection and disease progression.

scholarly journals Natural resistance-associated macrophage protein-1 gene polymorphisms and genetic susceptibility to pulmonary tuberculosis in sudanese patients

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Hamdan Zaki Hamdan ◽  
◽  
Yousif Omer Elgaili ◽  
Waleed Abd Alrazig Dosogi ◽  
◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Genetic Susceptibility ◽  
Gene Polymorphisms ◽  
Public Awareness ◽  
Natural Resistance ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Macrophage Protein

Genetic susceptibility to tuberculosis has been investigated worldwide, however a few studies conducted in Sudanese patients. Polymorphisms in NRAMP1 have shown an important association with susceptibility to tuberculosis and progression to active disease. However, whether there is an association of these polymorphisms with pulmonary tuberculosis among Sudanese patients is not investigated yet. The aim of this study was to determine the association of NRAMP1 polymorphisms with development of pulmonary tuberculosis in Sudanese subjects with pulmonary tuberculosis. A case-controls study (100 in each arm) was conducted at Al-Shaab Teaching Hospital in Khartoum, Sudan during the period of March through September 2017. Genotyping for NRAMP1 (rs3731865) INTR4 and (rs17235409) D543N was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).There was no significant difference in the mean± SD of the age and body mass index (BMI) between the cases (tuberculosis) and the controls [37.7 ± 4.1 vs. 35.9 ± 3.9 years; P=0.702] and [24.6 ± 1.9 vs. 24.7 ± 2.1; P=0.444], respectively. None of the genotype frequencies investigated in the two polymorphisms were associated with the development of pulmonary tuberculosis. There was a significant association with the development of tuberculosis with illiteracy P=<0.001. Gene polymorphisms of NRAMP1 (rs3731865) INTR4 and (rs17235409) D543N were not associated with pulmonary tuberculosis development in this setting. Further study is needed with larger sample size and different design and settings. Increase public awareness about tuberculosis infections and specially in those who are illiterate.

scholarly journals FRI0550 CAN CYTOKINE GENE POLYMORPHISMS BE USEFUL FOR THE THERAPEUTIC CHOICE IN JAPANESE PATIENTS WITH RHEUMATOID ARTHRITIS?

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 876.2-877
Author(s):  
S. Tsujimoto ◽  
M. Shigesaka ◽  
A. Tanaka ◽  
Y. Ozaki ◽  
T. Ito ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Autoimmune Disease ◽  
Gene Polymorphisms ◽  
Therapeutic Response ◽  
Bone Erosion ◽  
Japanese Patients ◽  
Cartilage Degradation ◽  
Cytokine Gene ◽  
Biological Dmards ◽  
Cytokine Gene Polymorphisms

Background:Rheumatoid arthritis (RA) is a common autoimmune disease. It is characterized by systemic synovitis with bone erosion and joint cartilage degradation(1). Production of autoantibody is important for autoimmune disease. Cytokines play crucial roles in its pathogenesis(2). SNP distribution varies between races. Few studies have examined SNP targeted at Japanese patients. The analysis of cytokine gene polymorphisms is important factor of pathophysiology and treatment.Objectives:This analysis was aimed to investigate the association between cytokine gene polymorphisms and autoantibody and therapeutic response in Japanese RA patients.Methods:This study subjects consisted of 100 RA patients and 50 healthy controls. We extracted data on patient sex, age, disease duration, rheumatoid factor (RF), anti cyclic citrullinated peptide (anti-CCP) antibody and therapeutic response including methotrexate (MTX) and biological DMARDs. Genomic DNA was isolated from peripheral blood, these were genotyped for TNFα, TGFβ1, IL-6, IL-10 and IFNγ polymorphisms. We analyzed these data using a chi-square test.Results:IL-10 (-819 C/T and -592 C/A) revealed that there were significant decrease in the frequency of IL-10 (-819) CC genotype and (-592) CC genotype as compared to controls in RA patients. Genotyping of IL-10 showed that there was significant decrease ACC/ACC genotype (Table 1).IFNγ (+874 A/T) revealed that there was significant decrease in the frequency of TT genotype as compared to controls (Table 1).No significant differences in TNFα, TGFβ1and IL-6 genotypes and alleles frequency were observed between RA patients and control.TGFβ1(+869 A/T) in patients with anti-CCP antibody positive revealed that there was significant decrease in the frequency of TT genotype as compared to patients with anti-CCP antibody negative (Table 2).No significant association between RF and any cytokine gene polymorphism.Analyzing cytokine gene polymorphisms could be useful for treatment with MTX and biological DMARDs.Table 1.Table 2.Conclusion:IL-10 (-819 C/T, -592 C/A) and IFNγ (+874 A/T) polymorphism might be related to RA in Japanese population. In addition, TGFβ1(+869 A/T) polymorphism might be associated with the production of anti-CCP antibody. These results suggest that the analyzing cytokine gene polymorphisms may offer promise as useful factors in the choice of treatment for Japanese RA patients.References:[1] Scott DL, Wolfe F, Huizinga TW. Rheumatoid arthritis. Lancet. 2010; 376: 1094–108.[2] McInnes IB, Schett G. Cytokines in the pathogenesis of rheumatoid arthritis. Nat Rev Immunol. 2007 Jun;7(6):429-42.Disclosure of Interests:None declared

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