Chest
Clinical InvestigationsCOPDTumor Necrosis Factor Gene Complex in COPD and Disseminated Bronchiectasis
Section snippets
Subjects
The investigation was designed as an association study, consisting of unrelated individuals recruited from the same geographic area (Pavia, Northern Italy). In such a strategy, frequencies of known mutations/polymorphisms of a given gene are compared in different groups of individuals.3 All subjects investigated were white Caucasoids of Italian descent.
Obstructed Group 1:
Sixty-six consecutive patients (60 male and 6 female patients) with COPD. The diagnosis of COPD was made according to American Thoracic Society
Results
With reference to the TNF-308 polymorphism, allele frequencies of TNF-308*1 and TNF-308*2 were 0.881 and 0.119, respectively (number of alleles counted overall, 464). Table 2 reports the frequencies in the different groups of individuals studied. Frequencies of the TNF-308*2 allele in COPD and bronchiectasis patients were 11% and 15%, respectively, whereas in nonobstructive pulmonary disease patients and healthy control subjects, they were 18% and 10%, respectively. None of the comparisons was
Discussion
Investigation of the genetic component of multifactorial disorders such as COPD is a scientific priority.18 Based on the knowledge, albeit limited, of the biochemical basis of COPD, a number of putative candidate genes for this disease may be postulated, and, among them, the TNF gene complex may play a role.1, 3 The current hypothesis of the pathogenesis of COPD, and, to a lesser extent, of disseminated bronchiectasis, deals with an imbalance between proteinases and their naturally occurring
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Cited by (61)
EPHX1 Y113H polymorphism is associated with increased risk of chronic obstructive pulmonary disease in Kazakhstan population
2017, Mutation Research - Genetic Toxicology and Environmental MutagenesisCitation Excerpt :In some studies a strong association was found between this polymorphism and COPD while in the others no such association was found between them [8]. It was found that −308 G/A polymorphism was found to be a risk factor for developing COPD in Asian populations but not among the Caucasions [18]. In another study Sakao et al. reported a strong association exsisted between this polymorphism and the COPD patients in a Japanese population [19].
Is TNF-α gene polymorphism related to pulmonary functions and prognosis as determined by FEV<inf>1</inf>, BMI, COPD exacerbation and hospitalization in patients with smoking-related COPD in a Turkish population?
2014, Revista Portuguesa de PneumologiaCitation Excerpt :Many studies have shown an association between COPD and TNF-α-308 gene polymorphism in an Asian population.17–20 However, in a Caucasian population, although studies have been conducted in different countries, most of them did not show any association; this was similar to our results.12,21–30 A large family study from a Boston early-onset COPD study and another American study are the only two studies to show an association between COPD and TNF-α-308 polymorphism in a Caucasian population.13,31
Genetic Susceptibility
2014, Clinics in Chest MedicineCitation Excerpt :This study is difficult to interpret as one-third of the men were “never smokers”. Despite some supportive evidence,87 many subsequent studies appeared to find little evidence that TNF polymorphisms are associated with, or modify, the progression of COPD.68,73,88–97 GC (4q12), also known as vitamin D binding globulin, is a multifunctional protein that enhances the neutrophil and monocyte chemotactic activity of complement component 5a.
Tumour necrosis factor gene complex polymorphisms in chronic obstructive pulmonary disease
2007, Respiratory MedicineCitation Excerpt :The Ncol polymorphism lies in the first intron of the lymphotoxin alpha gene and is also biallelic It is debated if the Ncol polymorphism is of any functional significance, but there is some evidence that the LTα Ncol*2 allele is associated with higher TNFα levels.8,9 Several studies have examined the role of both of these polymorphisms, particularly the -308 polymorphism, in subjects with COPD.10–13 Our primary hypotheses were that these polymorphisms determined susceptibility to COPD and/or severity of COPD, by quantitative effects on the pulmonary function.
This work was supported by MURST, Italian CNR target project Biotechnologies, Consorzio Studi Universitari Verona, Ministero della Sanità–IRCCS Policlinico San Matteo grant 681RFM94/01 and Ministero della Sanità CF projects law 584/93.