Association of ET-1 gene polymorphisms with COPD phenotypes in a Caucasian population

Submitted: December 10, 2015
Accepted: December 10, 2015
Published: December 10, 2015
Abstract Views: 974
PDF: 478
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Background and Aim. The phenotypic expression of COPD consists of pulmonary emphysema and chronic bronchitis. An imprecise phenotypic definition may result in inconsistencies among genetic studies regarding COPD pathogenesis. Endothelin-1 gene polymorphisms have been linked to increased susceptibility of COPD development. The present study examined the involvement of +138 insA/delA and G198T ET-1 polymorphisms with emphysematous and bronchitic COPD phenotypes. Methods. In order to narrow down the phenotypic choices to either COPD-associated pulmonary emphysema or chronic bronchitis, a DLCO<60% predicted threshold was chosen as an indicator of severe emphysema.116 COPD smokers and 74 non-related, non-COPD smokers were evaluated. Results. Statistical analysis showed that the 4A allele of the +138insA/delA SNP and the 4A:T haplotype were associated predominantly with a chronic bronchitis phenotype, whereas the TT genotype of the G198T SNP was found to be protective from emphysema development. Conclusions. The presence of both the 4A and T allele seems to modify the final expression of COPD towards a chronic bronchitis phenotype, since the G:3A haplotype was associated with a predominantly emphysematous phenotype in our study.

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Kaparianos, A., F. Sampsonas, D. Lykouras, G. Efremidis, P. Drakatos, K. Karkoulias, C. Gogos, and K. Spiropoulos. 2015. “Association of ET-1 Gene Polymorphisms With COPD Phenotypes in a Caucasian Population”. Monaldi Archives for Chest Disease 75 (2). https://doi.org/10.4081/monaldi.2011.225.