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Tumor necrosis factor gene complex in COPD and disseminated bronchiectasis
C Patuzzo1, L S Gilè, M Zorzetto
1Istituto di Biologia e Genetica, Università degli Studi di Verona Italy.
Chest
|May 16, 2000
Summary
Tumor necrosis factor (TNF) gene polymorphisms were analyzed in COPD and bronchiectasis patients. These TNF gene variants do not appear to be significant genetic risk factors for COPD or bronchiectasis in Caucasoid individuals.
Area of Science:
- Immunogenetics
- Pulmonary Medicine
- Genetic Epidemiology
Background:
- Tumor necrosis factor (TNF) is a key proinflammatory cytokine implicated in COPD.
- Two TNF gene complex polymorphisms, LtalphaNcoI and TNF-308, are associated with TNF production levels.
- Higher TNF production correlates with LtalphaNcoI*1 and TNF-308*2 alleles.
Purpose of the Study:
- To investigate the frequencies of LtalphaNcoI and TNF-308 polymorphisms in COPD and bronchiectasis patients.
- To compare these frequencies with healthy controls and nonobstructive pulmonary disease subjects.
Main Methods:
- An association study design was employed.
- Genomic DNA from 66 COPD, 23 bronchiectasis, 98 healthy controls, and 45 nonobstructive pulmonary disease subjects was analyzed.
- TNF-alpha and LtalphaNcoI polymorphisms were identified using polymerase chain reaction and restriction digestion.
Main Results:
- The TNF-308*2 allele frequency was 11% in COPD, 15% in bronchiectasis, 10% in controls, and 18% in nonobstructive disease.
- The LtalphaNcoI*1 allele frequency was 28% in COPD, 30% in bronchiectasis, 29% in controls, and 29% in nonobstructive disease.
- Linkage disequilibrium was observed between the two TNF gene loci (Delta = 0.068).
Conclusions:
- The TNF gene complex, specifically the LtalphaNcoI and TNF-308 polymorphisms, does not appear to be a major genetic risk factor for COPD or bronchiectasis.
- These findings are specific to Caucasoid individuals and the studied polymorphisms.