Source: Annual Congress 2002 - Cell biology and genetics of COPD and emphysema
Disease area: Airway diseases

Abstract

It is widely accepted that COPD is a largely heterogeneous disorder, including chronic bronchitis, pulmonary emphysema, and chronic asthma, alone or in combination.Since studies of TNF gene complex as a putative genetic risk factor for COPD in different populations yielded inconsistent results, a possible explanation lies in the incomplete definition of the COPD phenotype.To address this issue,we studied 2 COPD populations :1) COPD A : 63 males characterised by significant impairment of FEV1(31+/-10% pred.)and of DLco(31+/-12% pred.); 2) COPD B : 59 males characterised by significant impairment of FEV1 (39+/-12% pred.)irrespective of DLco value.74 healthy males served as controls.On genomic DNA we performed the following RFLP analyses: TNF-308,LtαNcoI, TNF receptor 1 exon 1 nt 36, TNF receptor 2 exon 6 nt 196. We could not detect significantly different frequencies among the 3 populations with reference to the alleles of the TNF-308, TNFR1 exon 1 nt 36, and TNFR2 exon 6 nt 196 polymorphisms. In contrast, the LtαNcoI allele 2, which is associated with normal constitutional levels of lymphotoxin α, was overrepresented in COPD A subjects (RR=1.9133) with respect to both healthy controls and COPD B subjects. Accordingly, the LTαNcoI 2,2 genotype in COPD A subjects showed a similar behavior (RR=2.0484). Beyond the results, our investigation would stress the importance of narrowing the phenotype in a heterogeneous condition such as COPD.

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M. Luisetti, I. Ferrarotti, M. Zorzetto, M. Beccaria, L. S. Gilè, R. Porta, A. De Silvestri, N. Ambrosino, P. Pignatti, I. Cerveri, E. Pozzi (Pavia, Gussago, Verona, Italy). Study of tumor necrosis factor family genes in two phenotypes of COPD. Eur Respir J 2002; 20: Suppl. 38, 631

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