Association between single nucleotide polymorphisms and haplotypes in ADAM33 gene and chronic obstructive pulmonary disease

Abstract

Objective To investigate whether polymorphisms and haplotypes of S1,S2 locus alleles in ADAM33 gene has any bearingon chronic obstructive pulmonary disease (COPD) and lung function in Han population of northern China.Methods The genotypes of S1,S2 locus alleles in 90 COPD patients and 90 healthy controls were tested with PCR-direct sequeneing analysis. Haplotypes and their frequencies were established and analyzed by SHEsis online software.Results ①There was no significant difference between the COPD group and the control group in the frequencies of S1 locus genotypes and alleles ( P ＞0.05).There was a significant difference between the COPD group and the control group in the frequencies of S2 locus genotypes and alleles ( P ＜0.05).②Logistic regression analysis showed:there was not statistically significant difference in the relative risk of COPD in S1 locus genotype ( P ＞0.05).There was a statistically significant difference in the relative risk of COPD in S2 locus genotype ( P ＜0.05),and the odds ratio ( OR ) of G/G+C/G genotype was 2.364 (95％ CI 1.251-4.466).③In COPD group,the relationship between ADAM33 gene S2 locus genotype and clinical parameters of lung function display:the difference of FEV1 ％ in genotypes was no statistically significant,but the difference of FEV1/FVC in genotypes was statistically significant,and G/G genotype with FEV1/FVC decline was more significantly than C/C,C/G genotype.④SHEsis online software analysis for S1,S2 loci haplotype showed that haplotype C/G in COPD and control groups was statistically significant difference ( P ＜ 0.05).Conclusions In Han population of northern China,the polymorphism in ADAM33 gene have association with the susceptibility to COPD,and have no association with the severity of COPD. Key words: Chronic obstructive pulmonary disease; A disintegrin and metalloprotease; ADAM33 gene ; Single nucleotide polymorphism; Haplotype