DNA Sequence Variation and Regulation of Genes Involved in Pathogenesis of Pulmonary Tuberculosis

Qidwai, Tabish; Jamal, Farrukh; Khan, Musharaf

doi:10.1111/j.1365-3083.2012.02696.x

Cited by 11 publications

(4 citation statements)

References 155 publications

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“…The long arm of chromosome 1, where the IL-10 gene is situated, contains known polymorphisms within the IL-10 promoter region, including -1082G/A, -819T/C, and -592A/C [ 43 ]. Furthermore, IL-10 is reportedly associated with TB in different ethnic backgrounds [ 49 ].…”

Section: Discussionmentioning

confidence: 99%

Interleukin-10 Promoter Gene Polymorphisms and Susceptibility to Tuberculosis: A Meta-Analysis

et al. 2015

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ObjectiveAs an update to other recent meta-analyses, the purpose of this study was to explore whether interleukin-10 (IL-10) polymorphisms and their haplotypes contribute to tuberculosis (TB) susceptibility.MethodsWe searched for published case-control studies examining IL-10 polymorphisms and TB in PubMed, EMBASE, Cochrane Central Register of Controlled Trials (CENTRAL), Wanfang databases and the Chinese National Knowledge Infrastructure (CNKI). Odds ratios (ORs) with 95% confidence intervals (CIs) were used to calculate the strengths of the associations.ResultsA total of 28 studies comprising 8,242 TB patients and 9,666 controls were included in the present study. There were no significant associations between the -1082G/A, -819C/T, and -592A/C polymorphisms and TB in the pooled samples. Subgroup analyses revealed that the -819T allele was associated with an increased TB risk in Asians in all genetic models (T vs. C: OR=1.17, 95% CI=1.05-1.29, P=0.003; TT vs. CC: OR=1.37, 95% CI=1.09-1.72, P=0.006; CT+TT vs. CC: OR=1.33, 95% CI=1.09-1.63, P=0.006; TT vs. CT+CC: OR=1.17, 95% CI=1.02-1.35, P=0.03) and that the -592A/C polymorphism was significantly associated with TB in Europeans under two genetic models (A vs. C: OR=0.77, 95% CI=0.60-0.98, P=0.03; AA vs. CC: OR=0.53, 95% CI=0.30-0.95, P=0.03). Furthermore, the GCC IL-10 promoter haplotype was associated with an increased risk of TB (GCC vs. others: P=1.42, 95% CI=1.02-1.97, P=0.04). Subgroup analyses based on ethnicity revealed that the GCC haplotype was associated with a higher risk of TB in Europeans, whereas the ACC haplotype was associated with a lower TB risk in both Asians and Europeans.ConclusionsThis meta-analysis suggests that the IL-10-819T/C polymorphism is associated with the risk of TB in Asians and that the IL-10-592A/C polymorphism may be a risk factor for TB in Europeans. Furthermore, these data indicate that IL-10 promoter haplotypes play a vital role in the susceptibility to or protection against the development of TB.

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Section: Discussionmentioning

confidence: 99%

Interleukin-10 Promoter Gene Polymorphisms and Susceptibility to Tuberculosis: A Meta-Analysis

et al. 2015

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“…Expression quantitative trait loci data data available (http://eqtl.uchicago.edu) for the CC genotype of BTNL2 SNP rs3763313 indicates its lower expression level than in AA or AC genotypes found in fibroblasts, lymphoblasts, and T cells. 39 Indeed, SNP rs3763313 is located at the binding sites of the Yin Yang 1 (YY1) transcription factor on the promoter regions of BTNL2 gene, as well as rs17496307 in HLA-DRA, and rs9269491 in HLADRB1genes 40 (Gene Cards, http://www.genecards.org/previous/cgi-bin/carddisp.pl?gene=BTNL2). YY1 either activates or suppresses numerous genes in response to a diverse range of extracellular stimuli and stresses.…”

Section: Discussionmentioning

confidence: 99%

Novel 6p21.3 Risk Haplotype Predisposes to Acute Coronary Syndrome

Sinisalo

Vlachopoulou

Marchesani

et al. 2016

Circ Cardiovasc Genet

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Background-The HLA-DRB1*01 allele of the human leukocyte antigen has been associated with acute coronary syndrome.Genome-wide association studies have revealed associations with human leukocyte antigen and non-human leukocyte antigen genes of 3 major histocompatibility complex gene classes but not at allelic level. Methods and Results-We conducted a large-scale genetic analysis on a case-control cohort comprising 5376 acute coronary syndrome cases and 4852 unrelated controls from 4 populations of 2 European countries. We analyzed the risk candidate allele of HLA-DRB1*01 by genomic real-time polymerase chain reaction together with high-density single nucleotide polymorphisms of the major histocompatibility complex to precisely identify risk loci for acute coronary syndrome with effective clinical implications. We found a risk haplotype for the disease containing single nucleotide polymorphisms from BTNL2 and HLA-DRA genes and the HLA-DRB1*01 allele. The association of the haplotype appeared in 3 of the 4 populations, and the direction of the effect was consistent in the fourth. Coronary samples from subjects homozygous for the disease-associated haplotype showed higher BTNL2 mRNA levels (r=0.760; P<0.00001).We localized, with immunofluorescence staining, BTNL2 in CD68-positive macrophages of the coronary artery plaques. In homozygous cases, BTNL2 blocking, in T-cell stimulation assays, enhanced CD4 10,11 This may explain why the HLA-DRB1*01 association has emerged only in studies with direct HLA allele typing, but in no GWA studies.2,4 HLA-DRB1*01 may play a role in promoting coronary artery disease by affecting antigen presentation.12 Presentation of peptide fragments of oxidized low-density lipoprotein cholesterol may connect the cholesterol pathway to inflammation and immunology in atherosclerosis progression. Clinical Perspective on p 63Because of the promising results from previous GWA and candidate gene studies and the fact that the MHC contains many genes with putative immune functions, we hypothesized that analysis of other MHC genes using high-density SNPs stratified according to the HLA-DRB1*01 allele will show novel associations with acute coronary syndrome (ACS) with effective clinical implications. Materials and Methods Patient PopulationsOur entire study comprised 1 discovery population (from Finland) and 3 replication populations (I and II from Finland and III from Spain) for a total of 5376 cases and 4852 control subjects. The discovery population included 2090 ACS cases. 13 Replication population I included 742 cases either with ST-elevation myocardial infarction or non-ST-elevation myocardial infarction.14 Replication population II included 762 either ST-elevation myocardial infarction or non-STelevation myocardial infarction cases. 15 Replication population III included 1768 first myocardial infarction cases. 16,17 Control subjects for discovery and replication populations I and II were selected from The National FINRISK Study (FINRISK) 1992(FINRISK) , 1997(FINRISK) , 2002(FINRISK) , and ...

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“…The most important of these is tumor necrosis factor α (TNF-α), a family of interleukin (IL)-1, namely (IL-1β, IL-18), IL-12, and INFg, as well as anti-inflammatory cytokines of which IL-10 and transforming growth factor-β (TGF-β). 1,4,[6][7][8] Based on the Qidwai et al 9 study, it was estimated that about 275 single nucleotide polymorphisms (SNPs) located on 19 genes were involved in affecting protein structure and a person's vulnerability to being infected with TB.…”

Section: Introductionmentioning

confidence: 99%

Protective Effect of the T1212C Macrophage Mannose Receptor Gene Polymorphism on Pulmonary Tuberculosis

Triyani

Hartati

Budiman

et al. 2022

Glob Med Health Commun

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The interaction between the mannose receptor, which is encoded by the macrophage mannose receptor (MMR) gene, and the most virulent antigen (the mannose-capped lipoarabinomannan) cell wall of virulent strains of Mycobacterium tuberculosis trigger an innate and adaptive immune response. It also produces pro and anti-inflammatory cytokines, which play a role in the pathogenesis of tuberculosis (TB) infection. Therefore, MMR gene polymorphism is a risk factor and is associated with the prognosis for active pulmonary TB. This study aimed to determine the correlation between MMR gene polymorphism and active or latent pulmonary tuberculosis. In this phase, MMR gene polymorphism was analyzed using a case-control design consisting of 74 control group subjects (patients with latent TB) and 74 case groups (patients with active pulmonary TB). The subject’s MMR gene DNA sequencing examination. The study was conducted at the Teaching Hospital, Faculty of Medicine, Universitas Padjadjaran Bandung, from February 2014 to January 2015. The statistical analysis used chi-square and odds ratio. The study’s result has shown the MMR gene polymorphism factor that correlated to the incidence of active pulmonary TB was T1212C (OR=0.253; 95% CI=0.111−0.575; p=0.001). There was an MMR gene in one SNP in the control group (C1323T) only and five single nucleotide polymorphisms (SNPs) in both groups (C1303T, C1221, T1212C, G1186A, and G1195A). Therefore, it can be concluded that MMR gene polymorphism on the T1212C site correlated with the incidence of active pulmonary tuberculosis and was protective.

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DNA Sequence Variation and Regulation of Genes Involved in Pathogenesis of Pulmonary Tuberculosis

Cited by 11 publications

References 155 publications

Interleukin-10 Promoter Gene Polymorphisms and Susceptibility to Tuberculosis: A Meta-Analysis

Interleukin-10 Promoter Gene Polymorphisms and Susceptibility to Tuberculosis: A Meta-Analysis

Novel 6p21.3 Risk Haplotype Predisposes to Acute Coronary Syndrome

Protective Effect of the T1212C Macrophage Mannose Receptor Gene Polymorphism on Pulmonary Tuberculosis

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