Association of ADAM33 gene polymorphisms with COPD in the Mongolian population of China.

Background: Chronic obstructive pulmonary disease (COPD) is a respiratory disorder with increasing prevalence and mortality, influenced by both environmental and genetic factors. ADAM33 gene has been found to be associated with asthma, declined lung function and COPD.

Aim: The aim of this study was to find out if SNPs in ADAM33 (V4, T+1, T1, T2, S1, S2, Q-1 and F+1) play any role in genetic susceptibility to COPD in the Mongolian population of China.

Subjects And Methods: Two hundred and fifteen Mongolian COPD patients and 223 Mongolian healthy individuals were recruited for the study. Eight polymorphic loci (V4, T+1, T2, T1, S2, S1, Q-1, and F+1) of ADAM33 were selected for genotyping. Genotyping was carried out using the Polymerase Chain Reaction and Restriction Fragment Length polymorphism (PCR-RFLP) method.

Results: Seven SNPs in ADAM33 were associated with COPD (T+1, p = 0.014; T2, p = 0.018; T1, p = 0.048; S2, p = 0.003; S1, p = 0.000; Q-1, p = 0.000 and F+1, p = 0.000), even after Bonferroni correction, SNPs S2, S1, Q-1 and F+1 remained significant. Haplotype analysis showed that the frequencies of haplotype H1 (GGAGGGT), H5 (GGAGGGC) and H10 (GGGGAGT) were significantly higher in the COPD group than in the control group (p = 0.002, 0.031 and 0.009, respectively). In contrast, the haplotype H11 (GGACAGC) was more common in the control group than in the case group (p = 0.015).

Conclusions: Seven SNPs in ADAM33 were associated with COPD in the Mongolian population of China.