ADAM33 gene polymorphisms in chronic obstructive pulmonary disease
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EUROPEAN JOURNAL OF MEDICAL RESEARCH
Eur J Med Res (2009) 14(Suppl. IV): 182-186
December 7, 2009 © I. Holzapfel Publishers 2009
ADAM33 GENE POLYMORPHISMS IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE
S. Pabst1, C. Pizarro Touron1, A. Gillissen 2, M. Lennarz1, I. Tuleta1, G. Nickenig1, D. Skowasch1, C. Grohé 3 1 Medizinische Klinik und Poliklinik II, Department of Medicine, Bonn University Hospital, Germany; 2 Department of Pneumology, St. George Medical Center, Leipzig, Germany; 3 Ev. Lungenklinik Berlin-Buch, Germany
Abstract Study objective: The pathogenesis of chronic obstructive pulmonary disease (COPD) is characterized by an interaction of environmental influences, particularly cigarette smoking, and genetic determinants. Given the global increase in COPD, research on the genomic variants that affect susceptibility to this complex disorder is reviving. In the present study, we investigated whether single nucleotide polymorphisms in ‘a disintegrin and metalloprotease’ 33 (ADAM33) are associated with the development and course of COPD. Patients and design: We genotyped 150 German COPD patients and 152 healthy controls for the presence of the F+1 and S_2 SNPs in ADAM 33 that lead to the base pair exchange G to A and C to G, respectively. To assess whether these genetic variants are influential in the course of COPD, we subdivided the cohort into two subgroups comprising 60 patients with a stable and 90 patients with an unstable course of disease. Results: In ADAM33, the frequency of the F+1 A allele was 35.0% among stable and 43.9% among unstable COPD subjects, which was not significantly different from the 35.5% found in the controls (P = 0.92 and P = 0.07, respectively). The frequency of the S_2 mutant allele in subjects with a stable COPD was 23.3% (P = 0.32), in subjects with an unstable course 30.6% (P = 0.47). Conclusion: The study shows that there is no significant difference in the distribution of the tested SNPs between subjects with and without COPD. Furthermore, these polymorphisms appear to have no consequences for the stability of the disease course. Key words: COPD, ADAM33, genetics
INTRODUCTION
Progressive airflow limitation due to chronic obstructive bronchitis and emphysema is the main characteristic of chronic obstructive pulmonary disease (COPD). At the moment, COPD ranks fourth as a global cause of death and shows a worldwide increase both in morbidity and mortality. This development has provoked
rising interest in the clarification of the pathogenic mechanisms underlying this common disease, in order to deduce appropriate and effective therapeutic interventions. Environmental and genetic determinants and their interactions influence COPD susceptibility. The most significant environmental contributor is tobacco smoke. However, not all smokers develop COPD, indicating that genetic factors are at play. Genomic approaches have investigated multiple candidate genes, with inconsistent results [1]. Research on the genetic bases for COPD is therefore still required. A genetic study has identified
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