| Summary: | <p>Abstract</p> <p>Background</p> <p>Chronic obstructive pulmonary disease (COPD) is influenced by both environmental and genetic factors. ADAM33 (a disintegrin and metalloproteinase 33) has been one of the most exciting candidate genes for asthma since its first association with the disease in Caucasian populations. Recently, ADAM33 was shown to be associated with excessive decline of lung function and COPD. The aim of this study was to evaluate the potential relationship between polymorphisms of ADAM33 and COPD in a Han population in northeastern China.</p> <p>Methods</p> <p>A total of 312 COPD patients and a control group of 319 healthy volunteers were recruited for this study. Eight polymorphic loci (V4, T+1, T2, T1, S2, S1, Q-1, and F+1) of ADAM33 were selected for genotyping. Genotypes were determined by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.</p> <p>Results</p> <p>Statistically significant differences in the distributions of the T2G, T1G, S2C, and Q-1G alleles between patients and controls were observed (<it>P </it>< 0.001, odds ratio (OR) = 2.81, 95% confidence interval (CI) = 2.19-3.61; <it>P </it>< 0.001, OR = 2.60, 95% CI = 2.06-3.30; <it>P </it>= 0.03, OR = 1.31, 95% CI = 1.02-1.69; and <it>P </it>< 0.001, OR = 1.93, 95% CI = 1.50-2.50, respectively). Haplotype analysis showed that the frequencies of the CGGGGAGC, CGGGGAGT, CGGGCAGC, and CGGGGGGC haplotypes were significantly higher in the case group than in the control group (<it>P </it>= 0.0002, 0.0001, 0.0005, and 0.0074, respectively). In contrast, the haplotype CGAAGAGC was more common in the control group than in the case group (<it>P </it>< 0.0001).</p> <p>Conclusion</p> <p>These preliminary results suggest an association between ADAM33 polymorphisms and COPD in a Chinese Han population.</p>
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