Abstract: Objective To investigate the association between polymorphism of S1, S2 locus allele in ADAM 33 gene and chronic obstructive pulmonary disease (COPD) and lung function in Xinjiang Uygur population. Methods Blood samples from 217 COPD patients and 218 healthy controls were collected. Samples of DNA was extracted, and S1, S2 single nucleotide polymorphism (ADAM 33) was detected by ABI SNaPshot SNP genotyping. Results There were no significant differences in the frequencies of S1 locus CC, CT, TT genotypes and C, T alleles between patient group and control group (P > 0.05). There were no significant differences in the frequencies of S1 locus CC, CG, GG genotypes and C, G alleles between patient group and control group (P > 0.05). In patient group, there were no significant differences in S1, S2 locus genotype and clinical indicators of lung function display, and in the FEV1% predicted and FEV1/FVC (P > 0.05). Haplotype analysis showed that there were no significant differences in three kinds of haplotypes between patient group and control group (P > 0.05). Conclusion There is no significant difference in the polymorphism of S1, S2 locus allele in ADAM 33 gene and the susceptibility to COPD in Xinjiang Uygur population.

Key words: pulmonary disease, chronic obstructive, ADAM proteins, polymorphism, single nucleotide, UYGUR nationality, ADAM 33