Positive association between two polymorphic sites (+134 insA/delA and G198T) of the endothelin-1 gene and chronic obstructive pulmonary disease. A case-control study

摘要: Summary Endothelin-1 (ET-1) has been implicated in the pathogenesis of Chronic Obstructive Pulmonary Disease (COPD) for establishing an inflammatory loop respiratory mucosa that could become independent from initial irritant factor. Common causes COPD exacerbations are associated with elevated ET-1 sputum concentrations. Genetic variants gene, lead to peptide levels, have not investigated COPD. We performed a case control, genetic study assess possible associations two polymorphisms adenine insertion (+134 insA/delA) and guanine thymine transversion (G198T) phenotype disease severity. The genotypes 209 subjects, 107 smokers (patients) 102 non-COPD (controls) were examined. Statistical analysis revealed 3A/4A 4A/4A more common ( P =0.047). Diplotypic subjects carrying 3A3A;TT genotype had lower risk development =0.027). Within patient group carriers GT often mild or moderate compared patients GG =0.004). Haplotypic distribution 4A:T 4A:G haplotypes increased development. Additionally, 3A:G haplotype developing severe COPD, whereas 3A:T most probably mild–moderate