The Relationship Of ADAM33 Gene S1, S2 With The Susceptibility To Chronic Obstructive Pulmonary Disease In Uygur Population Of Xinjiang In China

Objective: To investigate the association polymorphism of S1, S2 locus allele in ADAM 33 gene between chronic obstructive pulmonary disease and lung function in Xinjiang Uygur population. Methods: Adopt Case-control study, collect 217 cases Xinjiang Uygur COPD patients as cases group, and collect 218 cases Xinjiang Uygur healthy people as control group. 1. Extraction of 435 cases subjects blood samples of DNA. 2. Using ABI SNaPshot SNP genotyping technology to detect ADAM 33 gene S1, S2 single nucleotide polymorphism and analysis each subjects of the distribution of genotypes and alleles. 3. Using SPSS17.0 statistical software for statistical analysis of all data, statistical analysises adopt One-way ANOVA, χ2 test, t test, and calculate the values of odds ratio and 95% confidence intervals for odds ratio. Results: 1. Case groups and control groups general information were compared display: two groups of gender(male, female), age(years), smoking history(yes, no), smoking index(number of cigarettes smoked per day×years of smoking, cigarettes/year), BMI(body mass index, BMI, kg/m2), the differences were not statistically significant(P> 0.05); Lung function indices(FEV1 predicted value(%), FEV1/FVC) compared, the differences were statistically significant(P <0.05). 2. Case groups and control groups ADAM33 gene S1, S2 locus genotypes distribution consistent with Hardy-Weinberg genetic equilibrium law(P> 0.05);3. On the ADAM33 gene S1, S2 locus, genotype constitute than of cases group(S1 locus C/C, C/T+T/T genotypes were : 87.0%, 13.0%; S2 locus C/C, C/G, G/G genotype were: 57.2%, 36.3%, 6.5%); genotype constitute than of control group(S1 locus C/C, C/T + T/T genotypes were : 85.3%, 14.7%; S2 locus C/C, C/G, G/G genotype were : 59.4%, 35.5%, 5.1%), Comparison of ADAM33 gene S1, S2 locus genotype frequencies distribution, the difference were not statistically significance(S1: χ2 = 0.288, P = 0.591; S2: χ2 = 0.500, P = 0.779). 4. On the ADAM33 gene S1, S2 locus, allele frequencies constitute than of cases group(S1 locus C, T allele were: 93.3%, 6.7%; S2 locus C, G allele were: 75.3%, 24.7%); allele frequencies constitute than of control group(S1 locus C, T allele, were: 91.9%, 8.1%; S2 locus C, G allele were: 77.2%, 22.8%), Comparison of ADAM33 gene S1, S2 locus allele frequencies distribution, the difference were not statistically significance(S1:χ2=0.578,P=0.447;S2:χ2=0.404,P=0.525). 5. Association between cases group S1, S2 locus genotype and clinical indicators of lung function display: comparison of S1, S2 locus of the three genotypes FEV1 % predicted and FEV1/FVC, the difference were not statistically significance(S1: t = 0.532, P = 0.516; S2: F = 0.499, P = 0.848),(S1: t = 0.401, P = 0.541; S2: F = 0.831, P = 0.473).6. Haplotype analysis showed that comparison of three kinds of haplotypesin the case group and the control group, the difference were not statistically significant(Hap1:χ2=0.356, P=0.551; Hap2 : χ2=2.292, P=0.130; Hap2 : χ2=0.578, P=0.447). Conclusion: 1. S1, S2 locus of ADAM33 polymorphism may no obvious relationship with susceptibility to COPD disease in Xinjiang Uygur population. 2. In this study, the sample size do not represent the entire population of the gene mutation, should further expand the sample size and decreases causing more ADAM33 gene S1, S2 sites of false-negative results possible.