ADAM33 G ENE POLYMORPHISMS IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE

2009 
Study objective: The pathogenesis of chronic obstruc tive 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 disor der is reviving. In the present study, we investigated whether single nucleotide polymorphisms in ‘a disinte grin 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 pres ence 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, respec tively. To assess whether these genetic variants are in fluential 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 al lele was 35.0% among stable and 43.9% among unsta ble COPD subjects, which was not significantly differ ent 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 signifi cant difference in the distribution of the tested SNPs between subjects with and without COPD. Further more, these polymorphisms appear to have no conse quences for the stability of the disease course.
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