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Copyright ©ERS Journals Ltd 2003
Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema
1 Dept of Respiratory Diseases, IRCCS San Matteo Hospital, University of Pavia, Pavia, 2 S. Maugeri Foundation, Scientific Institute of Gussago (BS), Gussago, 3 Biology and Genetics Unit, DMIBG, University of Verona, Verona, Italy
CORRESPONDENCE: M. Luisetti, Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, IRCCS Policlinico San Matteo, Via Taramelli 5, 27100, Pavia, Italy. Fax: 39 0382502269. E-mail: m.luisetti@smatteo.pv.it
Keywords: association Study, candidate gene, complex traits, gene polymorphisms, polymerase chain reaction
Received: June 14, 2002
Accepted October 23, 2002
This work was supported by grants from Ricerca Corrente of IRCCS Policlinico San Matteo, Italian CNR Target Project Biotechnology, the Italian Ministry of University and Research, and Fondazione Cariplo.
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 <70% predicted) and a diffusing capacity for carbon monoxide <50% 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-
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.
gene, and exon 1 and exon 6 of the TNF receptor 1 and 2 genes, respectively.
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