Neither IL-1 β, IL-1 receptor antagonist, nor TNF- α polymorphisms are associated with susceptibility to COPD

Ishii, Takeo; Matsuse, Takeshi; Teramoto, Shinji; Matsui, Hotaka; Miyao, Mariko; Hosoi, Takayuki; Takahashi, Hiroyuki; Fukuchi, Yoshinosuke; Ouchi, Yasuyoshi

doi:10.1053/rmed.2000.0808

Cited by 81 publications

(62 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Working on this assumption and given the lack of association of allele 2 of the TNF-308 (TNF-308*2) with COPD in another Japanese study [16], and the findings of KEATINGS et al [17] who identified a COPD phenotype, i.e. poor prognosis possibly associated with the same allele in the British population, the present authors decided to re-evaluate the role of the TNF family genes in the Italian COPD population.…”

mentioning

confidence: 99%

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

Ferrarotti¹,

Zorzetto²,

Beccaria³

et al. 2003

Eur Respir J

View full text Add to dashboard Cite

Genetic factors are believed to play a role in the individual susceptibility to chronic obstructive pulmonary disease (COPD). Tumour necrosis factor (TNF) family genes have been widely investigated but inconsistent results may lie either in the genetic heterogeneity of populations or in the poor phenotype definition. A genetic study was performed using a narrower phenotype of COPD.The authors studied 86 healthy smokers and 63 COPD subjects who were enrolled based on irreversible airflow obstruction (forced expiratory volume in one second/forced vital capacity v70% predicted) and a diffusing capacity for carbon monoxide v50% predicted (moderate-to-severe COPD associated with pulmonary emphysema). The following polymorphisms were investigated: TNF-308, the biallelic polymorphism located in the first intron of the lymphotoxin-a gene, and exon 1 and exon 6 of the TNF receptor 1 and 2 genes, respectively.No significant deviations were found concerning the four polymorphisms studied between the two populations.The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease. Eur Respir J 2003; 21: 444-449.

show abstract

mentioning

confidence: 99%

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

Ferrarotti¹,

Zorzetto²,

Beccaria³

et al. 2003

Eur Respir J

View full text Add to dashboard Cite

show abstract

“…The IL1B gene contains an SNP in the promoter region (C-511T) and the IL1RN gene contains a pentaallelic tandem-repeat polymorphic site in intron 2. None of the genotypes alone were associated with the susceptibility to COPD, nor with the rate of decline of lung function in smokers (Ishii et al 2000). However, the distribution of IL1B/IL1RN haplotypes differed in smokers with a rapid decline in lung function from non-decliners (Joos et al 2001).…”

Section: Interleukinesmentioning

confidence: 83%

“…Their results indicated that the TNF-α-308 allele 2 might be partly associated with the emphysematous phenotype (Sakao et al 2002). In contrast, associations between the TNF2 allele and COPD were not confirmed in other studies, neither in Caucasians (Higham et al 2000;Patuzzo et al 2000), nor in a Japanese population (Ishii et al 2000) (Table 3). There was no association between the TNF-α gene promoter genotype and the severity of airflow obstruction or the degree of emphysema in COPD (Higham et al 2000), neither this genotype played a significant role in bronchiectasis developing as a consequence of frequent respiratory tract infections in COPD patients (Patuzzo et al 2000).…”

Section: Gene Polymorphisms Of Inflammatory Mediators In Relation To mentioning

confidence: 85%

The role of gene polymorphisms in the pathogenesis of chronic obstructive pulmonary disease

et al. 2008

View full text Add to dashboard Cite

Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality worldwide. Irreversible airflow limitation, both progressive and associated with an inflammatory response of the lungs to noxious particles or gases, is a hallmark of the disease. Cigarette smoking is the most important environmental risk factor for COPD, nevertheless, only approximately 20-30% of smokers develop symptomatic disease. Epidemiological studies, case-control studies in relatives of patients with COPD, and twin studies suggest that COPD is a genetically complex disease with environmental factors and many involved genes interacting together. Two major strategies have been employed to identify the genes and the polymorphisms that likely contribute to the development of complex diseases: association studies and linkage analyses. Biologically plausible pathogenetic mechanisms are prerequisites to focus the search for genes of known function in association studies. Protease-antiprotease imbalance, generation of oxidative stress, and chronic inflammation are recognized as the principal mechanisms leading to irreversible airflow obstruction and parenchymal destruction in the lung. Therefore, genes which have been implicated in the pathogenesis of COPD are involved in antiproteolysis, antioxidant barrier and metabolism of xenobiotic substances, inflammatory response to cigarette smoke, airway hyperresponsiveness, and pulmonary vascular remodelling. Significant associations with COPD-related phenotypes have been reported for polymorphisms in genes coding for matrix metalloproteinases, microsomal epoxide hydrolase, glutathione-S-transferases, heme oxygenase, tumor necrosis factor, interleukines 1, 8, and 13, vitamin D-binding protein and β-2-adrenergic receptor (ADRB2), whereas adequately powered replication studies failed to confirm most of the previously observed associations. Genome-wide linkage analyses provide us with a novel tool to identify the general locations of COPD susceptibility genes, and should be followed by association analyses of positional candidate genes from COPD pathophysiology, positional candidate genes selected from gene expression studies, or dense single nucleotide polymorphism panels across regions of linkage. Haplotype analyses of genes with multiple polymorphic sites in linkage disequilibrium, such as the ADRB2 gene, provide another promising field that has yet to be explored in patients with COPD. In the present article we review the current knowledge about gene polymorphisms that have been recently linked to the risk of developing COPD and/or may account for variations in the disease course.

show abstract

“…Genotyping (adapted after Ishii T et al 2000) [19] DNA was extracted from 300 μl peripheral blood samples using Wizard Genomic DNA Purifi cation Kit (Wizard® Genomic DNA Purifi cation Kit, Promega, MA, USA).…”

Section: Methodsmentioning

confidence: 99%

Genetic Polymorphism TNFα -308G>A and Ischemic Stroke in Northern Romania

Petrisor¹,

Popp²,

Cătană³

et al. 2013

Acta Medica Marisiensis

View full text Add to dashboard Cite

Introduction: Stroke is one of the leading causes of death in Romania. Evidence in supporting the role of the pro-infl ammatory cytokine TNFalpha in ischemic pathogenesis is now well established. The aim of the present study is to evaluate the relationship between TNF -308G>A polymorphism and ischemic stroke in a Northern Romanian population group and to determine whether it has an infl uence on the risk of cerebral events. This is a cross-sectional, randomized, case-control study for the evaluation of TNF -308G>A polymorphism alleles frequency among patients with ischemic stroke. Material and method: The study included 108 patients diagnosed with ischemic stroke (neurological and CT scan examination), and 118 healthy unrelated controls. TNF -308G>A genotyping was carried out using PCR-RFLP technique. The amplifi cation of the relevant gene fragment was subjected to restriction enzyme digestion, followed by gel electrophoresis. Results: Molecular analysis did not reveal an increased frequency of GA mutant genotype in the study group compared to the control group (p = 0.879, OR = 0.928, CI = 0.512-1.682). Conclusions:We found no signifi cant differences in distribution of the TNF -308G>A polymorphism between ischemic stroke patients and controls.

show abstract

Neither IL-1 β, IL-1 receptor antagonist, nor TNF- α polymorphisms are associated with susceptibility to COPD

Cited by 81 publications

References 31 publications

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

The role of gene polymorphisms in the pathogenesis of chronic obstructive pulmonary disease

Genetic Polymorphism TNFα -308G>A and Ischemic Stroke in Northern Romania

Contact Info

Product

Resources

About